pmid stringlengths 5 8 | title stringlengths 17 342 | abstract stringlengths 1 4.53k | all_entity_list listlengths 2 73 | label listlengths 1 80 | intra-sentence listlengths 1 80 | head_gene_entity listlengths 1 80 | tail_diease_entity listlengths 1 80 | head_name listlengths 1 80 | tail_name listlengths 1 80 |
|---|---|---|---|---|---|---|---|---|---|
10022417 | The same molecular defects of the gonadotropin-releasing hormone receptor determine a variable degree of hypogonadism in affected kindred. | Detailed endocrinological studies were performed in the three affected kindred of a family carrying mutations of the GnRH receptor gene. All three were compound heterozygotes carrying on one allele the Arg262Gln mutation and on the other allele two mutations (Gln106Arg and Ser217Arg). When expressed in heterologous ce... | [
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"text_name": "complete idiopathic hypogonadotropic hypogonadism"
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{
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{
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"end_idx": "73",
"entity_id": "2798",
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"text_name": "gonadotropin-releasing hormone receptor"
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{
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"entity_id": "2798",
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"text_name": "GnRH receptor"
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] | [
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"text_name": "complete idiopathic hypogonadotropic hypogonadism"
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{
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"entity_id": "D007006",
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"text_name": "hypogonadi... | [
"gonadotropin-releasing hormone receptor",
"GnRH receptor"
] | [
"complete idiopathic hypogonadotropic hypogonadism",
"hypogonadism"
] |
10022458 | Discordant measures of androgen-binding kinetics in two mutant androgen receptors causing mild or partial androgen insensitivity, respectively. | We have characterized two different mutations of the human androgen receptor (hAR) found in two unrelated subjects with androgen insensitivity syndrome (AIS): in one, the external genitalia were ambiguous (partial, PAIS); in the other, they were male, but small (mild, MAIS). Single base substitutions have been found i... | [
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"text_name": "androgen insensitivity syndrome"
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{
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"entity_id": "D013734",
"entity_type": "Disease",
"text_name": "AIS"
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{
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"entity_id": "367",
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"text_name": "androgen receptor"
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{
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"entity_id": "10894",
"entity_type": "Gene",
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] | [
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{
"begin_idx": "264",
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"entity_id": "D013734",
"entity_type": "Disease",
"text_name": "androgen insensitivity syndr... | [
"androgen receptor",
"hAR"
] | [
"androgen insensitivity syndrome",
"androgen insensitivity syndrome"
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10022756 | The *NAT2 slow acetylator genotype is associated with bladder cancer in Taiwanese, but not in the Black Foot Disease endemic area population. | [
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"entity_id": "D001749",
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{
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"text_name": "Foot Disease"
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] | [
"NAT2",
"NAT2"
] | [
"bladder cancer",
"Foot Disease"
] | |
10024302 | Genomic organization of the KCNQ1 K+ channel gene and identification of C-terminal mutations in the long-QT syndrome. | The voltage-gated K+ channel KVLQT1 is essential for the repolarization phase of the cardiac action potential and for K+ homeostasis in the inner ear. Mutations in the human KCNQ1 gene encoding the alpha subunit of the KVLQT1 channel cause the long-QT syndrome (LQTS). The autosomal dominant form of this cardiac diseas... | [
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"text_name": "ventricular arrhythmias"
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"entity_id": "D003638",
"entity_type": "Disease",
"text_name": "bilateral deafness"
},
{
"be... | [
"Yes",
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true
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{
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"end_idx": "153",
"entity_id": "3784",
"entity_type": "Gene",
"text_name": "KVLQT1"
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{
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"entity_id": "3784",
"entity_type": "Gene",
"text_name": "KCNQ1"
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] | [
{
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"entity_id": "D029597",
"entity_type": "Disease",
"text_name": "Romano-Ward syndrome"
},
{
"begin_idx": "100",
"end_idx": "116",
"entity_id": "D008133",
"entity_type": "Disease",
"text_name": "long-QT syndrome"
}
] | [
"KVLQT1",
"KCNQ1"
] | [
"Romano-Ward syndrome",
"long-QT syndrome"
] |
10025794 | Association of interleukin-1beta and interleukin-1 receptor antagonist genes with disease severity in MS. | OBJECTIVE: To investigate whether polymorphisms in the interleukin (IL)-1beta and IL-1 receptor antagonist (IL-1RA) genes are associated with both susceptibility to and clinical characteristics of MS. BACKGROUND: Genetic susceptibility to MS is determined by many partially identified genes. The genes encoding various ... | [
{
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"entity_id": "D009103",
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{
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true
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{
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"end_idx": "212",
"entity_id": "3557",
"entity_type": "Gene",
"text_name": "IL-1 receptor antagonist"
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] | [
{
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{
"begin_idx": "102",
"end_idx": "104",
"entity_id": "D009103",
"entity_type": "Disease",
"text_name": "MS"
}
] | [
"interleukin (IL)-1beta",
"IL-1 receptor antagonist"
] | [
"MS",
"MS"
] |
10027593 | UKPDS 31: Hepatocyte nuclear factor-1alpha (the MODY3 gene) mutations in late onset Type II diabetic patients in the United Kingdom. United Kingdom prospective diabetes study. | [
{
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"end_idx": "168",
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{
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... | [
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"entity_type": "Disease",
"text_name": "diabetes"
}
] | [
"MODY3",
"MODY3"
] | [
"Type II diabetic",
"diabetes"
] | |
10027710 | Identification of a novel mutation in a non-Jewish factor XI deficient kindred. | The role of factor XI (FXI) in blood coagulation has been clarified in recent years by descriptions of FXI-deficient patients who are prone to excessive bleeding after haemostatic challenge. We have studied a large kindred of an Italian FXI-deficient patient with a previously undescribed mutation. The propositus, a 68... | [
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"text_name": "blood coagulation"
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"entity_type": "Disease",
"text_name": "factor XI deficient"
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{
"begin_idx... | [
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true
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{
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"text_name": "factor XI"
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{
"begin_idx": "617",
"end_idx": "620",
"entity_id": "2160",
"entity_type": "Gene",
"text_name": "FXI"
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] | [
{
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"text_name": "Italian FXI-deficient"
},
{
"begin_idx": "1092",
"end_idx": "1100",
"entity_id": "D006470",
"entity_type": "Disease",
"text_name": "bleeding"
}
] | [
"factor XI",
"FXI"
] | [
"Italian FXI-deficient",
"bleeding"
] |
10029606 | Four new mutations in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causing X-linked sideroblastic anemia: increased pyridoxine responsiveness after removal of iron overload by phlebotomy and coinheritance of hereditary hemochromatosis. | X-linked sideroblastic anemia (XLSA) in four unrelated male probands was caused by missense mutations in the erythroid-specific 5-aminolevulinate synthase gene (ALAS2). All were new mutations: T647C, C1283T, G1395A, and C1406T predicting amino acid substitutions Y199H, R411C, R448Q, and R452C. All probands were clinic... | [
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"entity_id": "C536761",
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"text_name": "X-linked sideroblastic anemia"
},
{
"begin_idx": "254",
"end_idx": "283",
"entity_id": "C536761",
"entity_type": "Disease",
"text_name": "X-linked sideroblastic anemia"
... | [
"Yes",
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] | [
true,
true
] | [
{
"begin_idx": "73",
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"text_name": "ALAS2"
},
{
"begin_idx": "831",
"end_idx": "834",
"entity_id": "3077",
"entity_type": "Gene",
"text_name": "HFE"
}
] | [
{
"begin_idx": "93",
"end_idx": "122",
"entity_id": "C536761",
"entity_type": "Disease",
"text_name": "X-linked sideroblastic anemia"
},
{
"begin_idx": "871",
"end_idx": "875",
"entity_id": "C536761",
"entity_type": "Disease",
"text_name": "XLSA"
}
] | [
"ALAS2",
"HFE"
] | [
"X-linked sideroblastic anemia",
"XLSA"
] |
10036316 | Maroteaux-lamy syndrome: five novel mutations and their structural localization. | Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI, MPS VI) is an autosomal recessive disorder due to the deficiency of the lysosomal enzyme N-acetylgalactosamine-4-sulfatase (arylsulfatase B, ASB). Mutation analysis in Maroteaux-Lamy syndrome resulted in the identification of approximately 40 molecular defects un... | [
{
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"entity_id": "D009087",
"entity_type": "Disease",
"text_name": "Maroteaux-lamy syndrome"
},
{
"begin_idx": "81",
"end_idx": "104",
"entity_id": "D009087",
"entity_type": "Disease",
"text_name": "Maroteaux-Lamy syndrome"
},
{
"b... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "261",
"end_idx": "276",
"entity_id": "411",
"entity_type": "Gene",
"text_name": "arylsulfatase B"
},
{
"begin_idx": "278",
"end_idx": "281",
"entity_id": "411",
"entity_type": "Gene",
"text_name": "ASB"
}
] | [
{
"begin_idx": "106",
"end_idx": "135",
"entity_id": "D009087",
"entity_type": "Disease",
"text_name": "mucopolysaccharidosis type VI"
},
{
"begin_idx": "151",
"end_idx": "179",
"entity_id": "D030342",
"entity_type": "Disease",
"text_name": "autosomal recessive disorder"
... | [
"arylsulfatase B",
"ASB"
] | [
"mucopolysaccharidosis type VI",
"autosomal recessive disorder"
] |
10049523 | An interluekin 1B allele, which correlates with a high secretor phenotype, is associated with diabetic nephropathy. | Induction of interleukin 1 activates vascular endothelial and kidney mesangial cells, and increases production of type IV (basement membrane) collagen. Hence, genes within the interleukin 1 gene cluster are potential candidates in the pathogenesis of diabetic nephropathy. In a previously validated case-control study f... | [
{
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"entity_id": "D003920",
"entity_type": "Disease",
"text_name": "diabetes"
},
{
"begin_idx": "596",
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"entity_id": "D003920",
"entity_type": "Disease",
"text_name": "diabetes"
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{
"begin_idx": "887",
"end... | [
"Yes",
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] | [
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true
] | [
{
"begin_idx": "721",
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"entity_id": "3553",
"entity_type": "Gene",
"text_name": "interleukin 1A, interleukin 1B, interleukin 1 (type 1) receptor and interleukin 1 receptor"
},
{
"begin_idx": "292",
"end_idx": "305",
"entity_id": "3552",
"entity_type": "Gene",... | [
{
"begin_idx": "94",
"end_idx": "114",
"entity_id": "D003928",
"entity_type": "Disease",
"text_name": "diabetic nephropathy"
},
{
"begin_idx": "515",
"end_idx": "523",
"entity_id": "D003920",
"entity_type": "Disease",
"text_name": "diabetes"
}
] | [
"interleukin 1A, interleukin 1B, interleukin 1 (type 1) receptor and interleukin 1 receptor",
"interleukin 1"
] | [
"diabetic nephropathy",
"diabetes"
] |
10050867 | Association between nonrandom X-chromosome inactivation and BRCA1 mutation in germline DNA of patients with ovarian cancer. | BACKGROUND: Most human female cells contain two X chromosomes, only one of which is active. The process of X-chromosome inactivation, which occurs early in development, is usually random, producing tissues with equal mixtures of cells having active X chromosomes of either maternal or paternal origin. However, nonrando... | [
{
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"entity_id": "D009362",
"entity_type": "Disease",
"text_name": "invasive cancer"
},
{
"begin_idx": "497",
"end_idx": "502",
"entity_id": "D009369",
"entity_type": "Disease",
"text_name": "tumor"
},
{
"begin_idx": "1396",
... | [
"Yes",
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] | [
true,
false
] | [
{
"begin_idx": "60",
"end_idx": "65",
"entity_id": "672",
"entity_type": "Gene",
"text_name": "BRCA1"
},
{
"begin_idx": "1413",
"end_idx": "1418",
"entity_id": "672",
"entity_type": "Gene",
"text_name": "BRCA1"
}
] | [
{
"begin_idx": "959",
"end_idx": "985",
"entity_id": "D010051",
"entity_type": "Disease",
"text_name": "hereditary ovarian cancers"
},
{
"begin_idx": "859",
"end_idx": "877",
"entity_id": "D009386",
"entity_type": "Disease",
"text_name": "hereditary cancers"
}
] | [
"BRCA1",
"BRCA1"
] | [
"hereditary ovarian cancers",
"hereditary cancers"
] |
10051017 | A mutation in the RIEG1 gene associated with Peters' anomaly. | Mutations within the RIEG1 homeobox gene on chromosome 4q25 have previously been reported in association with Rieger syndrome. We report a 3' splice site mutation within the 3rd intron of the RIEG1 gene which is associated with unilateral Peters' anomaly. The mutation is a single base substition of A to T at the invar... | [
{
"begin_idx": "172",
"end_idx": "187",
"entity_id": "C535679",
"entity_type": "Disease",
"text_name": "Rieger syndrome"
},
{
"begin_idx": "547",
"end_idx": "561",
"entity_id": "C535679",
"entity_type": "Disease",
"text_name": "Rieger anomaly"
},
{
"begin_idx": "4... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "18",
"end_idx": "23",
"entity_id": "5308",
"entity_type": "Gene",
"text_name": "RIEG1"
},
{
"begin_idx": "83",
"end_idx": "88",
"entity_id": "5308",
"entity_type": "Gene",
"text_name": "RIEG1"
}
] | [
{
"begin_idx": "45",
"end_idx": "60",
"entity_id": "C537884",
"entity_type": "Disease",
"text_name": "Peters' anomaly"
},
{
"begin_idx": "547",
"end_idx": "561",
"entity_id": "C535679",
"entity_type": "Disease",
"text_name": "Rieger anomaly"
}
] | [
"RIEG1",
"RIEG1"
] | [
"Peters' anomaly",
"Rieger anomaly"
] |
10051160 | Severe Lhermitte-Duclos disease with unique germline mutation of PTEN. | Germline mutations in the PTEN gene have recently been identified in some individuals with Cowden disease (CD), Lhermitte-Duclos disease (LDD), and Bannayan-Zonana syndrome. We report on a patient with CD and LDD in whom a unique de novo germline missense mutation is present in the PTEN gene. Direct sequence analysis ... | [
{
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"entity_id": "D006223",
"entity_type": "Disease",
"text_name": "Lhermitte-Duclos disease"
},
{
"begin_idx": "162",
"end_idx": "176",
"entity_id": "D006223",
"entity_type": "Disease",
"text_name": "Cowden disease"
},
{
"begin_id... | [
"Yes"
] | [
true
] | [
{
"begin_idx": "65",
"end_idx": "69",
"entity_id": "5728",
"entity_type": "Gene",
"text_name": "PTEN"
}
] | [
{
"begin_idx": "7",
"end_idx": "31",
"entity_id": "D006223",
"entity_type": "Disease",
"text_name": "Lhermitte-Duclos disease"
}
] | [
"PTEN"
] | [
"Lhermitte-Duclos disease"
] |
10051604 | Human PEX19: cDNA cloning by functional complementation, mutation analysis in a patient with Zellweger syndrome, and potential role in peroxisomal membrane assembly. | At least 11 complementation groups (CGs) have been identified for the peroxisome biogenesis disorders (PBDs) such as Zellweger syndrome, for which seven pathogenic genes have been elucidated. We have isolated a human PEX19 cDNA (HsPEX19) by functional complementation of peroxisome deficiency of a mutant Chinese hamste... | [
{
"begin_idx": "93",
"end_idx": "111",
"entity_id": "D015211",
"entity_type": "Disease",
"text_name": "Zellweger syndrome"
},
{
"begin_idx": "283",
"end_idx": "301",
"entity_id": "D015211",
"entity_type": "Disease",
"text_name": "Zellweger syndrome"
},
{
"begin_id... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "610",
"end_idx": "616",
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"text_name": "Pex19p"
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{
"begin_idx": "1491",
"end_idx": "1497",
"entity_id": "5824",
"entity_type": "Gene",
"text_name": "Pex19p"
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] | [
{
"begin_idx": "93",
"end_idx": "111",
"entity_id": "D015211",
"entity_type": "Disease",
"text_name": "Zellweger syndrome"
},
{
"begin_idx": "236",
"end_idx": "267",
"entity_id": "D018901",
"entity_type": "Disease",
"text_name": "peroxisome biogenesis disorders"
}
] | [
"Pex19p",
"Pex19p"
] | [
"Zellweger syndrome",
"peroxisome biogenesis disorders"
] |
10053004 | Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B. | Biosynthesis of the molybdenum cofactor (MoCo) can be divided into (1) the formation of a precursor and (2) the latter's subsequent conversion, by molybdopterin synthase, into the organic moiety of MoCo. These two steps are reflected by the complementation groups A and B and the two formally distinguished types of MoC... | [
{
"begin_idx": "416",
"end_idx": "440",
"entity_id": "C535811",
"entity_type": "Disease",
"text_name": "types of MoCo deficiency"
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{
"begin_idx": "480",
"end_idx": "504",
"entity_id": "C535811",
"entity_type": "Disease",
"text_name": "types of MoCo deficiency"
},
{
... | [
"Yes",
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] | [
false,
false
] | [
{
"begin_idx": "798",
"end_idx": "803",
"entity_id": "4338",
"entity_type": "Gene",
"text_name": "MOCS2"
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{
"begin_idx": "798",
"end_idx": "803",
"entity_id": "4338",
"entity_type": "Gene",
"text_name": "MOCS2"
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{
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"end_idx": "107",
"entity_id": "C565373",
"entity_type": "Disease",
"text_name": "cofactor deficiency type B"
},
{
"begin_idx": "1073",
"end_idx": "1087",
"entity_id": "C535811",
"entity_type": "Disease",
"text_name": "MoCo-deficient"
}
] | [
"MOCS2",
"MOCS2"
] | [
"cofactor deficiency type B",
"MoCo-deficient"
] |
10053008 | Genomic structure of the canalicular multispecific organic anion-transporter gene (MRP2/cMOAT) and mutations in the ATP-binding-cassette region in Dubin-Johnson syndrome. | Dubin-Johnson syndrome (DJS) is an autosomal recessive disease characterized by conjugated hyperbilirubinemia. Previous studies of the defects in the human canalicular multispecific organic anion transporter gene (MRP2/cMOAT) in patients with DJS have suggested that the gene defects are responsible for DJS. In this st... | [
{
"begin_idx": "262",
"end_idx": "280",
"entity_id": "D006932",
"entity_type": "Disease",
"text_name": "hyperbilirubinemia"
},
{
"begin_idx": "147",
"end_idx": "169",
"entity_id": "D007566",
"entity_type": "Disease",
"text_name": "Dubin-Johnson syndrome"
},
{
"beg... | [
"Yes",
"No"
] | [
true,
false
] | [
{
"begin_idx": "88",
"end_idx": "93",
"entity_id": "1244",
"entity_type": "Gene",
"text_name": "cMOAT"
},
{
"begin_idx": "553",
"end_idx": "558",
"entity_id": "1244",
"entity_type": "Gene",
"text_name": "cMOAT"
}
] | [
{
"begin_idx": "147",
"end_idx": "169",
"entity_id": "D007566",
"entity_type": "Disease",
"text_name": "Dubin-Johnson syndrome"
},
{
"begin_idx": "206",
"end_idx": "233",
"entity_id": "D030342",
"entity_type": "Disease",
"text_name": "autosomal recessive disease"
}
] | [
"cMOAT",
"cMOAT"
] | [
"Dubin-Johnson syndrome",
"autosomal recessive disease"
] |
10069705 | Novel TSC2 mutation in a patient with pulmonary tuberous sclerosis: lack of loss of heterozygosity in a lung cyst. | A Japanese patient with tuberous sclerosis (TSC), who manifested with multiple lung cysts and pneumothorax, is described. All exons of two TSC genes, TSC1 and TSC2, in peripheral blood leukocytes from the patient were analyzed by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP). A novel T-t... | [
{
"begin_idx": "6",
"end_idx": "10",
"entity_id": "C566021",
"entity_type": "Disease",
"text_name": "TSC2"
},
{
"begin_idx": "274",
"end_idx": "278",
"entity_id": "C566021",
"entity_type": "Disease",
"text_name": "TSC2"
},
{
"begin_idx": "473",
"end_idx": "477... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "6",
"end_idx": "10",
"entity_id": "7249",
"entity_type": "Gene",
"text_name": "TSC2"
},
{
"begin_idx": "6",
"end_idx": "10",
"entity_id": "7249",
"entity_type": "Gene",
"text_name": "TSC2"
}
] | [
{
"begin_idx": "6",
"end_idx": "10",
"entity_id": "C566021",
"entity_type": "Disease",
"text_name": "TSC2"
},
{
"begin_idx": "38",
"end_idx": "66",
"entity_id": "D014402",
"entity_type": "Disease",
"text_name": "pulmonary tuberous sclerosis"
}
] | [
"TSC2",
"TSC2"
] | [
"TSC2",
"pulmonary tuberous sclerosis"
] |
10071100 | Central visual, acoustic, and motor pathway involvement in a Charcot-Marie-Tooth family with an Asn205Ser mutation in the connexin 32 gene. | BACKGROUND: X linked dominant Charcot-Marie-Tooth disease (CMT1X) is an inherited motor and sensory neuropathy that mainly affects the peripheral nervous system. CMT1X is associated with mutations in the gap junction protein connexin 32 (Cx32). Cx32 is expressed in Schwann cells and oligodendrocytes in the peripheral ... | [
{
"begin_idx": "1350",
"end_idx": "1354",
"entity_id": "C535919",
"entity_type": "Disease",
"text_name": "CMTX"
},
{
"begin_idx": "61",
"end_idx": "80",
"entity_id": "D002607",
"entity_type": "Disease",
"text_name": "Charcot-Marie-Tooth"
},
{
"begin_idx": "170",
... | [
"Yes",
"No"
] | [
true,
false
] | [
{
"begin_idx": "122",
"end_idx": "133",
"entity_id": "2705",
"entity_type": "Gene",
"text_name": "connexin 32"
},
{
"begin_idx": "762",
"end_idx": "766",
"entity_id": "2705",
"entity_type": "Gene",
"text_name": "Cx32"
}
] | [
{
"begin_idx": "1350",
"end_idx": "1354",
"entity_id": "C535919",
"entity_type": "Disease",
"text_name": "CMTX"
},
{
"begin_idx": "212",
"end_idx": "250",
"entity_id": "D010523",
"entity_type": "Disease",
"text_name": "inherited motor and sensory neuropathy"
}
] | [
"connexin 32",
"Cx32"
] | [
"CMTX",
"inherited motor and sensory neuropathy"
] |
10072423 | A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease. | Autosomal recessive juvenile parkinsonism (AR-JP, PARK2; OMIM 602544), one of the monogenic forms of Parkinson's disease (PD), was initially described in Japan. It is characterized by early onset (before age 40), marked response to levodopa treatment and levodopa-induced dyskinesias. The gene responsible for AR-JP was... | [
{
"begin_idx": "509",
"end_idx": "520",
"entity_id": "D004409",
"entity_type": "Disease",
"text_name": "dyskinesias"
},
{
"begin_idx": "67",
"end_idx": "99",
"entity_id": "D010300",
"entity_type": "Disease",
"text_name": "autosomal recessive parkinsonism"
},
{
"be... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "280",
"end_idx": "285",
"entity_id": "5071",
"entity_type": "Gene",
"text_name": "AR-JP"
},
{
"begin_idx": "547",
"end_idx": "552",
"entity_id": "5071",
"entity_type": "Gene",
"text_name": "AR-JP"
}
] | [
{
"begin_idx": "237",
"end_idx": "278",
"entity_id": "D020734",
"entity_type": "Disease",
"text_name": "Autosomal recessive juvenile parkinsonism"
},
{
"begin_idx": "1827",
"end_idx": "1829",
"entity_id": "D010300",
"entity_type": "Disease",
"text_name": "PD"
}
] | [
"AR-JP",
"AR-JP"
] | [
"Autosomal recessive juvenile parkinsonism",
"PD"
] |
10072428 | Germline E-cadherin gene (CDH1) mutations predispose to familial gastric cancer and colorectal cancer. | Inherited mutations in the E-cadherin gene ( CDH1 ) were described recently in three Maori kindreds with familial gastric cancer. Familial gastric cancer is genetically heterogeneous and it is not clear what proportion of gastric cancer susceptibility in non-Maori populations is due to germline CDH1 mutations. Therefo... | [
{
"begin_idx": "56",
"end_idx": "79",
"entity_id": "D013274",
"entity_type": "Disease",
"text_name": "familial gastric cancer"
},
{
"begin_idx": "208",
"end_idx": "231",
"entity_id": "D013274",
"entity_type": "Disease",
"text_name": "familial gastric cancer"
},
{
... | [
"Yes",
"Yes"
] | [
true,
true
] | [
{
"begin_idx": "9",
"end_idx": "19",
"entity_id": "999",
"entity_type": "Gene",
"text_name": "E-cadherin"
},
{
"begin_idx": "9",
"end_idx": "19",
"entity_id": "999",
"entity_type": "Gene",
"text_name": "E-cadherin"
}
] | [
{
"begin_idx": "1322",
"end_idx": "1346",
"entity_id": "D013274",
"entity_type": "Disease",
"text_name": "familial gastric cancers"
},
{
"begin_idx": "1686",
"end_idx": "1716",
"entity_id": "D015179",
"entity_type": "Disease",
"text_name": "gastric and colorectal cancers"... | [
"E-cadherin",
"E-cadherin"
] | [
"familial gastric cancers",
"gastric and colorectal cancers"
] |
10075388 | Reduced bcl-2 concentrations in hypertensive patients after lisinopril or nifedipine administration. | In 30 patients with essential hypertension and 30 healthy control subjects, we evaluated blood concentrations of B cell leukemia-2 (bcl-2), a protooncogene that can reduce apoptosis. Bcl-2 concentrations were higher in hypertensive than in normotensive subjects. The increase in pressure due to a cold pressor test caus... | [
{
"begin_idx": "32",
"end_idx": "44",
"entity_id": "D006973",
"entity_type": "Disease",
"text_name": "hypertensive"
},
{
"begin_idx": "131",
"end_idx": "143",
"entity_id": "D006973",
"entity_type": "Disease",
"text_name": "hypertension"
},
{
"begin_idx": "320",
... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "214",
"end_idx": "231",
"entity_id": "596",
"entity_type": "Gene",
"text_name": "B cell leukemia-2"
},
{
"begin_idx": "601",
"end_idx": "606",
"entity_id": "596",
"entity_type": "Gene",
"text_name": "bcl-2"
}
] | [
{
"begin_idx": "32",
"end_idx": "44",
"entity_id": "D006973",
"entity_type": "Disease",
"text_name": "hypertensive"
},
{
"begin_idx": "743",
"end_idx": "748",
"entity_id": "D015448",
"entity_type": "Disease",
"text_name": "bcl-2"
}
] | [
"B cell leukemia-2",
"bcl-2"
] | [
"hypertensive",
"bcl-2"
] |
10077519 | Homozygous deletion in KVLQT1 associated with Jervell and Lange-Nielsen syndrome. | BACKGROUND: Long-QT (LQT) syndrome is a cardiac disorder that causes syncope, seizures, and sudden death from ventricular arrhythmias, specifically torsade de pointes. Both autosomal dominant LQT (Romano-Ward syndrome) and autosomal recessive LQT (Jervell and Lange-Nielsen syndrome, JLNS) have been reported. Heterozyg... | [
{
"begin_idx": "192",
"end_idx": "215",
"entity_id": "D001145",
"entity_type": "Disease",
"text_name": "ventricular arrhythmias"
},
{
"begin_idx": "599",
"end_idx": "607",
"entity_id": "D003638",
"entity_type": "Disease",
"text_name": "deafness"
},
{
"begin_idx": ... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "23",
"end_idx": "29",
"entity_id": "3784",
"entity_type": "Gene",
"text_name": "KVLQT1"
},
{
"begin_idx": "1596",
"end_idx": "1602",
"entity_id": "3784",
"entity_type": "Gene",
"text_name": "KVLQT1"
}
] | [
{
"begin_idx": "58",
"end_idx": "80",
"entity_id": "D029593",
"entity_type": "Disease",
"text_name": "Lange-Nielsen syndrome"
},
{
"begin_idx": "1148",
"end_idx": "1177",
"entity_id": "D030342",
"entity_type": "Disease",
"text_name": "inherited as recessive traits"
}
] | [
"KVLQT1",
"KVLQT1"
] | [
"Lange-Nielsen syndrome",
"inherited as recessive traits"
] |
10079291 | Identification of the gene variations in human CD22. | CD22, a member of the immunoglobulin superfamily, is a B-cell transmembrane glycoprotein that acts as an accessory-signaling component of the B-cell antigen receptor (BCR). Recent evidence indicating the role of CD22 as a negative regulator of BCR signal transduction prompted us to test the possibility that genetic va... | [
{
"begin_idx": "719",
"end_idx": "739",
"entity_id": "D001172",
"entity_type": "Disease",
"text_name": "rheumatoid arthritis"
},
{
"begin_idx": "741",
"end_idx": "743",
"entity_id": "D001172",
"entity_type": "Disease",
"text_name": "RA"
},
{
"begin_idx": "1385",
... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "47",
"end_idx": "51",
"entity_id": "933",
"entity_type": "Gene",
"text_name": "CD22"
},
{
"begin_idx": "53",
"end_idx": "57",
"entity_id": "933",
"entity_type": "Gene",
"text_name": "CD22"
}
] | [
{
"begin_idx": "661",
"end_idx": "689",
"entity_id": "D008180",
"entity_type": "Disease",
"text_name": "systemic lupus erythematosus"
},
{
"begin_idx": "1385",
"end_idx": "1387",
"entity_id": "D001172",
"entity_type": "Disease",
"text_name": "RA"
}
] | [
"CD22",
"CD22"
] | [
"systemic lupus erythematosus",
"RA"
] |
10080178 | Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease. | Darier disease (DD) is an autosomal-dominant skin disorder characterized by loss of adhesion between epidermal cells (acantholysis) and abnormal keratinization. Recently we constructed a 2.4-Mb, P1-derived artificial chromosome contig spanning the DD candidate region on chromosome 12q23-24.1. After screening several g... | [
{
"begin_idx": "49",
"end_idx": "63",
"entity_id": "D007644",
"entity_type": "Disease",
"text_name": "Darier disease"
},
{
"begin_idx": "65",
"end_idx": "79",
"entity_id": "D007644",
"entity_type": "Disease",
"text_name": "Darier disease"
},
{
"begin_idx": "81",
... | [
"Yes",
"No"
] | [
true,
false
] | [
{
"begin_idx": "479",
"end_idx": "535",
"entity_id": "488",
"entity_type": "Gene",
"text_name": "sarco/endoplasmic reticulum Ca2(+)-ATPase type 2 isoform"
},
{
"begin_idx": "537",
"end_idx": "543",
"entity_id": "488",
"entity_type": "Gene",
"text_name": "SERCA2"
}
] | [
{
"begin_idx": "49",
"end_idx": "63",
"entity_id": "D007644",
"entity_type": "Disease",
"text_name": "Darier disease"
},
{
"begin_idx": "91",
"end_idx": "123",
"entity_id": "D030342",
"entity_type": "Disease",
"text_name": "autosomal-dominant skin disorder"
}
] | [
"sarco/endoplasmic reticulum Ca2(+)-ATPase type 2 isoform",
"SERCA2"
] | [
"Darier disease",
"autosomal-dominant skin disorder"
] |
10080184 | Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis. | The secreted polypeptide noggin (encoded by the Nog gene) binds and inactivates members of the transforming growth factor beta superfamily of signalling proteins (TGFbeta-FMs), such as BMP4 (ref. 1). By diffusing through extracellular matrices more efficiently than TGFbeta-FMs, noggin may have a principal role in crea... | [
{
"begin_idx": "713",
"end_idx": "735",
"entity_id": "C536223",
"entity_type": "Disease",
"text_name": "proximal symphalangism"
},
{
"begin_idx": "879",
"end_idx": "907",
"entity_id": "C536943",
"entity_type": "Disease",
"text_name": "multiple synostoses syndrome"
},
... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "44",
"end_idx": "50",
"entity_id": "9241",
"entity_type": "Gene",
"text_name": "noggin"
},
{
"begin_idx": "909",
"end_idx": "914",
"entity_id": "9241",
"entity_type": "Gene",
"text_name": "SYNS1"
}
] | [
{
"begin_idx": "879",
"end_idx": "907",
"entity_id": "C536943",
"entity_type": "Disease",
"text_name": "multiple synostoses syndrome"
},
{
"begin_idx": "351",
"end_idx": "362",
"entity_id": "D006130",
"entity_type": "Disease",
"text_name": "TGFbeta-FMs"
}
] | [
"noggin",
"SYNS1"
] | [
"multiple synostoses syndrome",
"TGFbeta-FMs"
] |
10082481 | Structure of the type B human natriuretic peptide receptor gene and association of a novel microsatellite polymorphism with essential hypertension. | The natriuretic peptide (NP) system may play a crucial role in development of essential hypertension (EH). C-type NP dilates arteries and lowers blood pressure and inhibits proliferation of vascular smooth muscle cells via the type B NP receptor (NPR-B). However, the association of the human NPR-B gene with EH has not... | [
{
"begin_idx": "124",
"end_idx": "146",
"entity_id": "D006973",
"entity_type": "Disease",
"text_name": "essential hypertension"
},
{
"begin_idx": "226",
"end_idx": "248",
"entity_id": "D006973",
"entity_type": "Disease",
"text_name": "essential hypertension"
},
{
... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "395",
"end_idx": "400",
"entity_id": "4882",
"entity_type": "Gene",
"text_name": "NPR-B"
},
{
"begin_idx": "395",
"end_idx": "400",
"entity_id": "4882",
"entity_type": "Gene",
"text_name": "NPR-B"
}
] | [
{
"begin_idx": "124",
"end_idx": "146",
"entity_id": "D006973",
"entity_type": "Disease",
"text_name": "essential hypertension"
},
{
"begin_idx": "2025",
"end_idx": "2027",
"entity_id": "D013915",
"entity_type": "Disease",
"text_name": "GT"
}
] | [
"NPR-B",
"NPR-B"
] | [
"essential hypertension",
"GT"
] |
10084318 | A novel mutation in the 1A domain of keratin 2e in ichthyosis bullosa of Siemens. | Ichthyosis bullosa of Siemens (IBS) is a rare autosomal dominant skin disorder with clinical features similar to epidermolytic hyperkeratosis (EHK). Both diseases have been linked to the type II keratin cluster on chromosome 12q. Hyperkeratosis and blister formation are relatively mild in IBS compared with EHK, and th... | [
{
"begin_idx": "331",
"end_idx": "338",
"entity_id": "D001768",
"entity_type": "Disease",
"text_name": "blister"
},
{
"begin_idx": "195",
"end_idx": "223",
"entity_id": "D017488",
"entity_type": "Disease",
"text_name": "epidermolytic hyperkeratosis"
},
{
"begin_id... | [
"Yes",
"No"
] | [
true,
false
] | [
{
"begin_idx": "37",
"end_idx": "47",
"entity_id": "3849",
"entity_type": "Gene",
"text_name": "keratin 2e"
},
{
"begin_idx": "641",
"end_idx": "651",
"entity_id": "3849",
"entity_type": "Gene",
"text_name": "keratin 2e"
}
] | [
{
"begin_idx": "51",
"end_idx": "80",
"entity_id": "D053560",
"entity_type": "Disease",
"text_name": "ichthyosis bullosa of Siemens"
},
{
"begin_idx": "312",
"end_idx": "326",
"entity_id": "D017488",
"entity_type": "Disease",
"text_name": "Hyperkeratosis"
}
] | [
"keratin 2e",
"keratin 2e"
] | [
"ichthyosis bullosa of Siemens",
"Hyperkeratosis"
] |
10084598 | The hepatic nuclear factor-1alpha G319S variant is associated with early-onset type 2 diabetes in Canadian Oji-Cree. | Mutations in the gene encoding hepatic nuclear factor-1alpha (HNF-1alpha) have been found in patients with maturity-onset diabetes of the young. We identified a new variant in the HNF-1alpha gene, namely G319S, in Ontario Oji-Cree with type 2 diabetes. G319S is within the proline II-rich domain of the trans-activation... | [
{
"begin_idx": "86",
"end_idx": "94",
"entity_id": "D003920",
"entity_type": "Disease",
"text_name": "diabetes"
},
{
"begin_idx": "239",
"end_idx": "260",
"entity_id": "D003920",
"entity_type": "Disease",
"text_name": "diabetes of the young"
},
{
"begin_idx": "360... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "179",
"end_idx": "189",
"entity_id": "6927",
"entity_type": "Gene",
"text_name": "HNF-1alpha"
},
{
"begin_idx": "179",
"end_idx": "189",
"entity_id": "6927",
"entity_type": "Gene",
"text_name": "HNF-1alpha"
}
] | [
{
"begin_idx": "885",
"end_idx": "905",
"entity_id": "D003924",
"entity_type": "Disease",
"text_name": "type 2 diabetes of 4"
},
{
"begin_idx": "79",
"end_idx": "83",
"entity_id": "D017827",
"entity_type": "Disease",
"text_name": "type"
}
] | [
"HNF-1alpha",
"HNF-1alpha"
] | [
"type 2 diabetes of 4",
"type"
] |
10089893 | Molecular characterization of two mutations in platelet glycoprotein (GP) Ib alpha in two Finnish Bernard-Soulier syndrome families. | Bernard-Soulier syndrome (BSS) is a rare hereditary bleeding disorder and macrothrombocytopenia which is caused by a defect in the platelet glycoprotein Ib/IX/V (GP Ib/IX/V) complex, the receptor for von Willebrand factor and thrombin. Here we report the molecular basis of the classical form of BSS in two unrelated Fi... | [
{
"begin_idx": "207",
"end_idx": "228",
"entity_id": "C564525",
"entity_type": "Disease",
"text_name": "macrothrombocytopenia"
},
{
"begin_idx": "98",
"end_idx": "122",
"entity_id": "D001606",
"entity_type": "Disease",
"text_name": "Bernard-Soulier syndrome"
},
{
... | [
"Yes",
"No"
] | [
true,
false
] | [
{
"begin_idx": "56",
"end_idx": "82",
"entity_id": "2811",
"entity_type": "Gene",
"text_name": "glycoprotein (GP) Ib alpha"
},
{
"begin_idx": "613",
"end_idx": "618",
"entity_id": "2815",
"entity_type": "Gene",
"text_name": "GP IX"
}
] | [
{
"begin_idx": "98",
"end_idx": "122",
"entity_id": "D001606",
"entity_type": "Disease",
"text_name": "Bernard-Soulier syndrome"
},
{
"begin_idx": "1144",
"end_idx": "1159",
"entity_id": "D001606",
"entity_type": "Disease",
"text_name": "Bernard-Soulier"
}
] | [
"glycoprotein (GP) Ib alpha",
"GP IX"
] | [
"Bernard-Soulier syndrome",
"Bernard-Soulier"
] |
10090345 | Reduction of myocardial infarct size by inhibition of inducible nitric oxide synthase. | The inducible nitric oxide synthase isoform (iNOS) is upregulated by cytokines and endotoxins in many types of cells, including cardiac myocytes. Nitric oxide (NO) induced by cytokines can be cytotoxic, and has been implicated in the pathophysiology of myocardial infarction, cardiomyopathy, and septic shock. To examin... | [
{
"begin_idx": "645",
"end_idx": "652",
"entity_id": "D000860",
"entity_type": "Disease",
"text_name": "hypoxia"
},
{
"begin_idx": "1225",
"end_idx": "1232",
"entity_id": "D000860",
"entity_type": "Disease",
"text_name": "hypoxia"
},
{
"begin_idx": "1351",
"en... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "132",
"end_idx": "136",
"entity_id": "4843",
"entity_type": "Gene",
"text_name": "iNOS"
},
{
"begin_idx": "1148",
"end_idx": "1152",
"entity_id": "4843",
"entity_type": "Gene",
"text_name": "iNOS"
}
] | [
{
"begin_idx": "340",
"end_idx": "361",
"entity_id": "D009203",
"entity_type": "Disease",
"text_name": "myocardial infarction"
},
{
"begin_idx": "363",
"end_idx": "377",
"entity_id": "D009202",
"entity_type": "Disease",
"text_name": "cardiomyopathy"
}
] | [
"iNOS",
"iNOS"
] | [
"myocardial infarction",
"cardiomyopathy"
] |
10090472 | Germline mutations in the multiple endocrine neoplasia type 1 gene: evidence for frequent splicing defects. | Multiple endocrine neoplasia type 1 (MEN 1) is a familial cancer syndrome characterized by parathyroid hyperplasia, pituitary adenomas, and neuroendocrine tumors of the pancreas and duodenum. In 1997, the MEN1 tumor suppressor gene was identified, and numerous germline mutations have been reported to be distributed th... | [
{
"begin_idx": "157",
"end_idx": "181",
"entity_id": "D009369",
"entity_type": "Disease",
"text_name": "familial cancer syndrome"
},
{
"begin_idx": "248",
"end_idx": "269",
"entity_id": "D009369",
"entity_type": "Disease",
"text_name": "neuroendocrine tumors"
},
{
... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "26",
"end_idx": "61",
"entity_id": "4221",
"entity_type": "Gene",
"text_name": "multiple endocrine neoplasia type 1"
},
{
"begin_idx": "600",
"end_idx": "605",
"entity_id": "4221",
"entity_type": "Gene",
"text_name": "MEN 1"
}
] | [
{
"begin_idx": "26",
"end_idx": "61",
"entity_id": "D018761",
"entity_type": "Disease",
"text_name": "multiple endocrine neoplasia type 1"
},
{
"begin_idx": "199",
"end_idx": "222",
"entity_id": "D010282",
"entity_type": "Disease",
"text_name": "parathyroid hyperplasia"
... | [
"multiple endocrine neoplasia type 1",
"MEN 1"
] | [
"multiple endocrine neoplasia type 1",
"parathyroid hyperplasia"
] |
10090474 | Mutation analysis in adenylosuccinate lyase deficiency: eight novel mutations in the re-evaluated full ADSL coding sequence. | The deficiency of adenylosuccinate lyase (ADSL, also termed adenylosuccinase) is an autosomal recessive disorder characterized by the accumulation in body fluids of succinylaminoimidazole-carboxamide riboside (SAICA-riboside) and succinyladenosine (S-Ado). Most ADSL-deficient children display marked psychomotor delay,... | [
{
"begin_idx": "21",
"end_idx": "54",
"entity_id": "C538235",
"entity_type": "Disease",
"text_name": "adenylosuccinate lyase deficiency"
},
{
"begin_idx": "129",
"end_idx": "165",
"entity_id": "C538235",
"entity_type": "Disease",
"text_name": "deficiency of adenylosuccina... | [
"Yes",
"No"
] | [
true,
false
] | [
{
"begin_idx": "143",
"end_idx": "165",
"entity_id": "158",
"entity_type": "Gene",
"text_name": "adenylosuccinate lyase"
},
{
"begin_idx": "103",
"end_idx": "107",
"entity_id": "158",
"entity_type": "Gene",
"text_name": "ADSL"
}
] | [
{
"begin_idx": "129",
"end_idx": "165",
"entity_id": "C538235",
"entity_type": "Disease",
"text_name": "deficiency of adenylosuccinate lyase"
},
{
"begin_idx": "478",
"end_idx": "486",
"entity_id": "D001321",
"entity_type": "Disease",
"text_name": "autistic"
}
] | [
"adenylosuccinate lyase",
"ADSL"
] | [
"deficiency of adenylosuccinate lyase",
"autistic"
] |
10090484 | Mutation analysis in 46 German families with familial hypercholesterolemia: identification of 8 new mutations. Mutations in brief no. 226. Online. | In order to obtain a survey of the mutations being prevalent in Northern Germany and to enable molecular genetic testing for families with clinically diagnosed familial hypercholesterolemia (FH), we screened 46 unrelated German individuals with elevated LDL levels for mutations in the 18 exons and their flanking intro... | [
{
"begin_idx": "45",
"end_idx": "74",
"entity_id": "D006938",
"entity_type": "Disease",
"text_name": "familial hypercholesterolemia"
},
{
"begin_idx": "307",
"end_idx": "336",
"entity_id": "D006938",
"entity_type": "Disease",
"text_name": "familial hypercholesterolemia"
... | [
"Yes",
"No"
] | [
true,
false
] | [
{
"begin_idx": "45",
"end_idx": "74",
"entity_id": "3949",
"entity_type": "Gene",
"text_name": "familial hypercholesterolemia"
},
{
"begin_idx": "652",
"end_idx": "660",
"entity_id": "338",
"entity_type": "Gene",
"text_name": "apoB-100"
}
] | [
{
"begin_idx": "45",
"end_idx": "74",
"entity_id": "D006938",
"entity_type": "Disease",
"text_name": "familial hypercholesterolemia"
},
{
"begin_idx": "338",
"end_idx": "340",
"entity_id": "D006938",
"entity_type": "Disease",
"text_name": "FH"
}
] | [
"familial hypercholesterolemia",
"apoB-100"
] | [
"familial hypercholesterolemia",
"FH"
] |
10090526 | The multiple cases of Fabry disease in a Russian family caused by an E341K amino acid substitution in the alpha-galactosidase A. | A large Russian family with multiple cases of Fabry disease in several generations is presented. Fourteen family members were clinico-biochemically examined. Among 12 adult children (19-32 years old) of one couple, five sons manifested angiokeratotic skin lesions and other Fabry symptoms. Biochemical studies including... | [
{
"begin_idx": "22",
"end_idx": "35",
"entity_id": "D000795",
"entity_type": "Disease",
"text_name": "Fabry disease"
},
{
"begin_idx": "175",
"end_idx": "188",
"entity_id": "D000795",
"entity_type": "Disease",
"text_name": "Fabry disease"
},
{
"begin_idx": "403",
... | [
"Yes",
"No"
] | [
true,
false
] | [
{
"begin_idx": "106",
"end_idx": "127",
"entity_id": "2717",
"entity_type": "Gene",
"text_name": "alpha-galactosidase A"
},
{
"begin_idx": "106",
"end_idx": "127",
"entity_id": "2717",
"entity_type": "Gene",
"text_name": "alpha-galactosidase A"
}
] | [
{
"begin_idx": "403",
"end_idx": "417",
"entity_id": "D000795",
"entity_type": "Disease",
"text_name": "Fabry symptoms"
},
{
"begin_idx": "380",
"end_idx": "392",
"entity_id": "D012871",
"entity_type": "Disease",
"text_name": "skin lesions"
}
] | [
"alpha-galactosidase A",
"alpha-galactosidase A"
] | [
"Fabry symptoms",
"skin lesions"
] |
10090529 | A single strand conformation polymorphism/heteroduplex (SSCP/HD) method for detection of mutations in 15 exons of the KVLQT1 gene, associated with long QT syndrome. | Congenital long QT syndrome (LQTS) is characterised by prolongation of the QT interval on ECG and cardiac arrhythmias, syncopes and sudden death. A rapid and reliable genetic diagnosis of the disease may be of great importance for diagnosis and treatment of LQTS. Mutations in the KVLQT1 gene, encoding a potassium-chan... | [
{
"begin_idx": "263",
"end_idx": "282",
"entity_id": "D001145",
"entity_type": "Disease",
"text_name": "cardiac arrhythmias"
},
{
"begin_idx": "297",
"end_idx": "309",
"entity_id": "D003645",
"entity_type": "Disease",
"text_name": "sudden death"
},
{
"begin_idx": ... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "118",
"end_idx": "124",
"entity_id": "3784",
"entity_type": "Gene",
"text_name": "KVLQT1"
},
{
"begin_idx": "634",
"end_idx": "640",
"entity_id": "3784",
"entity_type": "Gene",
"text_name": "KvLQT1"
}
] | [
{
"begin_idx": "165",
"end_idx": "192",
"entity_id": "D008133",
"entity_type": "Disease",
"text_name": "Congenital long QT syndrome"
},
{
"begin_idx": "61",
"end_idx": "63",
"entity_id": "D006816",
"entity_type": "Disease",
"text_name": "HD"
}
] | [
"KVLQT1",
"KvLQT1"
] | [
"Congenital long QT syndrome",
"HD"
] |
10090885 | Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance. | Autoimmune lymphoproliferative syndrome (ALPS) is a disorder of lymphocyte homeostasis and immunological tolerance. Most patients have a heterozygous mutation in the APT1 gene, which encodes Fas (CD95, APO-1), mediator of an apoptotic pathway crucial to lymphocyte homeostasis. Of 17 unique APT1 mutations in unrelated ... | [
{
"begin_idx": "144",
"end_idx": "206",
"entity_id": "D007154",
"entity_type": "Disease",
"text_name": "disorder of lymphocyte homeostasis and immunological tolerance"
},
{
"begin_idx": "0",
"end_idx": "39",
"entity_id": "D056735",
"entity_type": "Disease",
"text_name": "... | [
"Yes",
"No"
] | [
true,
false
] | [
{
"begin_idx": "294",
"end_idx": "299",
"entity_id": "355",
"entity_type": "Gene",
"text_name": "APO-1"
},
{
"begin_idx": "1709",
"end_idx": "1713",
"entity_id": "355",
"entity_type": "Gene",
"text_name": "APT1"
}
] | [
{
"begin_idx": "0",
"end_idx": "39",
"entity_id": "D056735",
"entity_type": "Disease",
"text_name": "Autoimmune lymphoproliferative syndrome"
},
{
"begin_idx": "144",
"end_idx": "206",
"entity_id": "D007154",
"entity_type": "Disease",
"text_name": "disorder of lymphocyte ... | [
"APO-1",
"APT1"
] | [
"Autoimmune lymphoproliferative syndrome",
"disorder of lymphocyte homeostasis and immunological tolerance"
] |
10092513 | Paradoxical decrease of an adipose-specific protein, adiponectin, in obesity. | We isolated the human adipose-specific and most abundant gene transcript, apM1 (Maeda, K., et al., Biochem. Biophys. Res. Commun. 221, 286-289, 1996). The apM1 gene product was a kind of soluble matrix protein, which we named adiponectin. To quantitate the plasma adiponectin concentration, we have produced monoclonal ... | [
{
"begin_idx": "69",
"end_idx": "76",
"entity_id": "D009765",
"entity_type": "Disease",
"text_name": "obesity"
},
{
"begin_idx": "53",
"end_idx": "64",
"entity_id": "9370",
"entity_type": "Gene",
"text_name": "adiponectin"
},
{
"begin_idx": "152",
"end_idx": "... | [
"Yes"
] | [
true
] | [
{
"begin_idx": "53",
"end_idx": "64",
"entity_id": "9370",
"entity_type": "Gene",
"text_name": "adiponectin"
}
] | [
{
"begin_idx": "69",
"end_idx": "76",
"entity_id": "D009765",
"entity_type": "Disease",
"text_name": "obesity"
}
] | [
"adiponectin"
] | [
"obesity"
] |
10094187 | Novel mutations in Rsk-2, the gene for Coffin-Lowry syndrome (CLS). | Coffin-Lowry syndrome (CLS) is an X-linked disorder characterized by facial dysmorphism, digit abnormalities and severe psychomotor retardation. CLS had previously been mapped to Xp22.2. Recently, mutations in the ribosomal S6 kinase (Rsk-2) gene were shown to be associated with CLS. We have tested five unrelated indi... | [
{
"begin_idx": "137",
"end_idx": "155",
"entity_id": "D000013",
"entity_type": "Disease",
"text_name": "facial dysmorphism"
},
{
"begin_idx": "188",
"end_idx": "211",
"entity_id": "D011596",
"entity_type": "Disease",
"text_name": "psychomotor retardation"
},
{
"be... | [
"Yes",
"No"
] | [
true,
false
] | [
{
"begin_idx": "19",
"end_idx": "24",
"entity_id": "6197",
"entity_type": "Gene",
"text_name": "Rsk-2"
},
{
"begin_idx": "303",
"end_idx": "308",
"entity_id": "6197",
"entity_type": "Gene",
"text_name": "Rsk-2"
}
] | [
{
"begin_idx": "39",
"end_idx": "60",
"entity_id": "D038921",
"entity_type": "Disease",
"text_name": "Coffin-Lowry syndrome"
},
{
"begin_idx": "137",
"end_idx": "155",
"entity_id": "D000013",
"entity_type": "Disease",
"text_name": "facial dysmorphism"
}
] | [
"Rsk-2",
"Rsk-2"
] | [
"Coffin-Lowry syndrome",
"facial dysmorphism"
] |
10094189 | Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes. | Sanfilippo B syndrome (mucopolysaccharidosis IIIB, MPS IIIB) is caused by a deficiency of alpha-N-acetylglucosaminidase, a lysosomal enzyme involved in the degradation of heparan sulphate. Accumulation of the substrate in lysosomes leads to degeneration of the central nervous system with progressive dementia often com... | [
{
"begin_idx": "485",
"end_idx": "505",
"entity_id": "D001523",
"entity_type": "Disease",
"text_name": "aggressive behaviour"
},
{
"begin_idx": "438",
"end_idx": "446",
"entity_id": "D003704",
"entity_type": "Disease",
"text_name": "dementia"
},
{
"begin_idx": "46... | [
"Yes",
"No"
] | [
true,
false
] | [
{
"begin_idx": "188",
"end_idx": "196",
"entity_id": "4669",
"entity_type": "Gene",
"text_name": "MPS IIIB"
},
{
"begin_idx": "188",
"end_idx": "196",
"entity_id": "4669",
"entity_type": "Gene",
"text_name": "MPS IIIB"
}
] | [
{
"begin_idx": "28",
"end_idx": "55",
"entity_id": "D009084",
"entity_type": "Disease",
"text_name": "mucopolysaccharidosis III B"
},
{
"begin_idx": "438",
"end_idx": "446",
"entity_id": "D003704",
"entity_type": "Disease",
"text_name": "dementia"
}
] | [
"MPS IIIB",
"MPS IIIB"
] | [
"mucopolysaccharidosis III B",
"dementia"
] |
10099885 | The DD genotype of the ACE gene polymorphism is associated with progression of diabetic nephropathy to end stage renal failure in IDDM. | BACKGROUND: The insertion-deletion (I/D) polymorphism of the angiotensin converting enzyme gene is a diallelic polymorphism that constitutes a genetic influence on the progression of renal diseases such as IgA nephropathy. Patients with the DD genotype have an accelerated progression towards end stage renal failure in... | [
{
"begin_idx": "4",
"end_idx": "6",
"entity_id": "C536170",
"entity_type": "Disease",
"text_name": "DD"
},
{
"begin_idx": "377",
"end_idx": "379",
"entity_id": "C536170",
"entity_type": "Disease",
"text_name": "DD"
},
{
"begin_idx": "1194",
"end_idx": "1196",
... | [
"Yes",
"Yes",
"No",
"No"
] | [
true,
false,
true,
true
] | [
{
"begin_idx": "197",
"end_idx": "226",
"entity_id": "1636",
"entity_type": "Gene",
"text_name": "angiotensin converting enzyme"
},
{
"begin_idx": "197",
"end_idx": "226",
"entity_id": "1636",
"entity_type": "Gene",
"text_name": "angiotensin converting enzyme"
},
{
... | [
{
"begin_idx": "79",
"end_idx": "99",
"entity_id": "D003928",
"entity_type": "Disease",
"text_name": "diabetic nephropathy"
},
{
"begin_idx": "1856",
"end_idx": "1879",
"entity_id": "D007676",
"entity_type": "Disease",
"text_name": "end-stage renal failure"
},
{
"... | [
"angiotensin converting enzyme",
"angiotensin converting enzyme",
"angiotensin converting enzyme",
"angiotensin converting enzyme"
] | [
"diabetic nephropathy",
"end-stage renal failure",
"stage renal failure",
"IDDM"
] |
10102298 | Bothnia dystrophy caused by mutations in the cellular retinaldehyde-binding protein gene (RLBP1) on chromosome 15q26. | PURPOSE: To determine the chromosomal location and to identify the gene causing a type of retinitis punctata albescens, called Bothnia dystrophy, found in a restricted geographic area in northern Sweden. METHODS: Twenty patients from seven families originating from a restricted geographic area in northern Sweden were ... | [
{
"begin_idx": "208",
"end_idx": "236",
"entity_id": "C562733",
"entity_type": "Disease",
"text_name": "retinitis punctata albescens"
},
{
"begin_idx": "793",
"end_idx": "821",
"entity_id": "C562733",
"entity_type": "Disease",
"text_name": "retinitis punctata albescens"
... | [
"Yes",
"No"
] | [
true,
false
] | [
{
"begin_idx": "45",
"end_idx": "83",
"entity_id": "6017",
"entity_type": "Gene",
"text_name": "cellular retinaldehyde-binding protein"
},
{
"begin_idx": "90",
"end_idx": "95",
"entity_id": "6017",
"entity_type": "Gene",
"text_name": "RLBP1"
}
] | [
{
"begin_idx": "0",
"end_idx": "17",
"entity_id": "C564392",
"entity_type": "Disease",
"text_name": "Bothnia dystrophy"
},
{
"begin_idx": "726",
"end_idx": "741",
"entity_id": "D009755",
"entity_type": "Disease",
"text_name": "night blindness"
}
] | [
"cellular retinaldehyde-binding protein",
"RLBP1"
] | [
"Bothnia dystrophy",
"night blindness"
] |
10102299 | Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens. | PURPOSE: To determine the frequency and spectrum of mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein (CRALBP) in patients with hereditary retinal degeneration. METHODS: The single-strand conformation polymorphism (SSCP) technique and a direct genomic sequencing technique were used to screen ... | [
{
"begin_idx": "99",
"end_idx": "127",
"entity_id": "C562733",
"entity_type": "Disease",
"text_name": "retinitis punctata albescens"
},
{
"begin_idx": "578",
"end_idx": "606",
"entity_id": "C562733",
"entity_type": "Disease",
"text_name": "retinitis punctata albescens"
... | [
"Yes",
"No"
] | [
true,
false
] | [
{
"begin_idx": "47",
"end_idx": "85",
"entity_id": "6017",
"entity_type": "Gene",
"text_name": "cellular retinaldehyde-binding protein"
},
{
"begin_idx": "1281",
"end_idx": "1286",
"entity_id": "6017",
"entity_type": "Gene",
"text_name": "RLBP1"
}
] | [
{
"begin_idx": "99",
"end_idx": "127",
"entity_id": "C562733",
"entity_type": "Disease",
"text_name": "retinitis punctata albescens"
},
{
"begin_idx": "989",
"end_idx": "1039",
"entity_id": "D030342",
"entity_type": "Disease",
"text_name": "recessively inherited retinitis... | [
"cellular retinaldehyde-binding protein",
"RLBP1"
] | [
"retinitis punctata albescens",
"recessively inherited retinitis punctata albescens"
] |
10190266 | Association of the 677C-->T mutation on the methylenetetrahydrofolate reductase gene in Turkish patients with neural tube defects. | We report the analysis of the 677C-->T mutation on the 5, 10-methylenetetrahydrofolate reductase gene in Turkish controls and cases of neural tube defects. Mutation analysis of 91 patients with neural tube defects, 72 mothers, 63 fathers, and 93 healthy controls has been made by polymerase chain reaction and allele sp... | [
{
"begin_idx": "110",
"end_idx": "129",
"entity_id": "D009436",
"entity_type": "Disease",
"text_name": "neural tube defects"
},
{
"begin_idx": "266",
"end_idx": "285",
"entity_id": "D009436",
"entity_type": "Disease",
"text_name": "neural tube defects"
},
{
"begin... | [
"Yes"
] | [
true
] | [
{
"begin_idx": "44",
"end_idx": "79",
"entity_id": "4524",
"entity_type": "Gene",
"text_name": "methylenetetrahydrofolate reductase"
}
] | [
{
"begin_idx": "110",
"end_idx": "129",
"entity_id": "D009436",
"entity_type": "Disease",
"text_name": "neural tube defects"
}
] | [
"methylenetetrahydrofolate reductase"
] | [
"neural tube defects"
] |
10190325 | Identification and characterization of mutations in patients with holocarboxylase synthetase deficiency. | Holocarboxylase synthetase deficiency (HCS) is an autosomal recessive disorder characterized by metabolic ketoacidosis, abnormal urine organic metabolites, and dermatitis. These symptoms are improved by pharmacological doses of biotin. In this study, we have analyzed seven patients with HCS deficiency found in Europea... | [
{
"begin_idx": "265",
"end_idx": "275",
"entity_id": "D003872",
"entity_type": "Disease",
"text_name": "dermatitis"
},
{
"begin_idx": "201",
"end_idx": "223",
"entity_id": "D007662",
"entity_type": "Disease",
"text_name": "metabolic ketoacidosis"
},
{
"begin_idx":... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "144",
"end_idx": "147",
"entity_id": "3141",
"entity_type": "Gene",
"text_name": "HCS"
},
{
"begin_idx": "1518",
"end_idx": "1521",
"entity_id": "3141",
"entity_type": "Gene",
"text_name": "HCS"
}
] | [
{
"begin_idx": "66",
"end_idx": "103",
"entity_id": "D028922",
"entity_type": "Disease",
"text_name": "holocarboxylase synthetase deficiency"
},
{
"begin_idx": "155",
"end_idx": "183",
"entity_id": "D030342",
"entity_type": "Disease",
"text_name": "autosomal recessive dis... | [
"HCS",
"HCS"
] | [
"holocarboxylase synthetase deficiency",
"autosomal recessive disorder"
] |
10192380 | A mutation in NRL is associated with autosomal dominant retinitis pigmentosa. | [
{
"begin_idx": "37",
"end_idx": "76",
"entity_id": "D012174",
"entity_type": "Disease",
"text_name": "autosomal dominant retinitis pigmentosa"
},
{
"begin_idx": "14",
"end_idx": "17",
"entity_id": "4901",
"entity_type": "Gene",
"text_name": "NRL"
}
] | [
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] | [
true
] | [
{
"begin_idx": "14",
"end_idx": "17",
"entity_id": "4901",
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"text_name": "NRL"
}
] | [
{
"begin_idx": "37",
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"entity_id": "D012174",
"entity_type": "Disease",
"text_name": "autosomal dominant retinitis pigmentosa"
}
] | [
"NRL"
] | [
"autosomal dominant retinitis pigmentosa"
] | |
10195814 | Association analysis of sequence variants of GABA(A) alpha6, beta2, and gamma2 gene cluster and alcohol dependence. | Quantitative trait analyses in mice suggest a vulnerability locus for physiological alcohol withdrawal severity on a chromosomal segment that harbors the genes encoding the alpha1, alpha6, beta2, and gamma2 subunits of the gamma-aminobutyric acid type-A receptor (GABR). We tested whether genetic variation at the human... | [
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{
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true
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},
{
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"entity_type": "Gene",
"text_name": "GABRA6"
},
{
"begin_idx": "316",
"end_idx": "322",
... | [
{
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{
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"entity_id": "D000437",
"entity_type": "Disease",
"text_name": "alcohol dependence"
},
{
"begin_idx... | [
"GABRG2",
"GABRA6",
"gamma2",
"gamma2"
] | [
"alcohol dependence",
"alcohol dependence",
"seizure",
"alcohol dependence"
] |
10196694 | An Asn > Lys substitution in saposin B involving a conserved amino acidic residue and leading to the loss of the single N-glycosylation site in a patient with metachromatic leukodystrophy and normal arylsulphatase A activity. | Sphingolipid activator proteins are small glycoproteins required for the degradation of sphingolipids by specific lysosomal hydrolases. Four of them, called saposins, are encoded by the prosaposin gene, the product of which is proteolytically cleaved into the four mature saposin proteins (saposins A, B, C, D). One of ... | [
{
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"text_name": "deficiency of saposin B"
},
{
"begin_idx": "159",
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"entity_id": "D007966",
"entity_type": "Disease",
"text_name": "metachromatic leukodystrophy"
},
... | [
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] | [
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true
] | [
{
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},
{
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"end_idx": "871",
"entity_id": "5660",
"entity_type": "Gene",
"text_name": "prosaposin"
}
] | [
{
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},
{
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"entity_id": "D007966",
"entity_type": "Disease",
"text_name": "metachromatic leukodystrophy"
}
] | [
"prosaposin",
"prosaposin"
] | [
"deficiency of saposin B",
"metachromatic leukodystrophy"
] |
10197076 | A cytotoxic T lymphocyte antigen-4 (CTLA-4) gene polymorphism is associated with autoimmune Addison's disease in English patients. | OBJECTIVE: Recent studies have demonstrated an association between a microsatellite polymorphism of the CTLA-4 gene, specifically a 106 base pair allele, and both Graves' disease and autoimmune hypothyroidism. The aim of the present study was to determine whether the same polymorphism of the CTLA-4 gene was associated... | [
{
"begin_idx": "314",
"end_idx": "339",
"entity_id": "C562768",
"entity_type": "Disease",
"text_name": "autoimmune hypothyroidism"
},
{
"begin_idx": "81",
"end_idx": "109",
"entity_id": "D000224",
"entity_type": "Disease",
"text_name": "autoimmune Addison's disease"
},
... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "2",
"end_idx": "34",
"entity_id": "1493",
"entity_type": "Gene",
"text_name": "cytotoxic T lymphocyte antigen-4"
},
{
"begin_idx": "765",
"end_idx": "769",
"entity_id": "170685",
"entity_type": "Gene",
"text_name": "APS2"
}
] | [
{
"begin_idx": "81",
"end_idx": "109",
"entity_id": "D000224",
"entity_type": "Disease",
"text_name": "autoimmune Addison's disease"
},
{
"begin_idx": "696",
"end_idx": "713",
"entity_id": "D000224",
"entity_type": "Disease",
"text_name": "Addison's disease"
}
] | [
"cytotoxic T lymphocyte antigen-4",
"APS2"
] | [
"autoimmune Addison's disease",
"Addison's disease"
] |
10198369 | Insulin-like growth factor I improves renal function in patients with end-stage chronic renal failure. | There is no pharmacological treatment to increase the glomerular filtration rate in end-stage renal disease (ESRD). The administration of 100 microgram/kg of insulin-like growth factor (IGF) I twice a day to patients with ESRD increases inulin clearance. However, its effect is short-lived and IGF-I has major side effe... | [
{
"begin_idx": "187",
"end_idx": "210",
"entity_id": "D007676",
"entity_type": "Disease",
"text_name": "end-stage renal disease"
},
{
"begin_idx": "212",
"end_idx": "216",
"entity_id": "D007676",
"entity_type": "Disease",
"text_name": "ESRD"
},
{
"begin_idx": "325... | [
"Yes",
"No"
] | [
true,
false
] | [
{
"begin_idx": "261",
"end_idx": "295",
"entity_id": "3479",
"entity_type": "Gene",
"text_name": "insulin-like growth factor (IGF) I"
},
{
"begin_idx": "397",
"end_idx": "402",
"entity_id": "3479",
"entity_type": "Gene",
"text_name": "IGF-I"
}
] | [
{
"begin_idx": "187",
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"entity_id": "D007676",
"entity_type": "Disease",
"text_name": "end-stage renal disease"
},
{
"begin_idx": "80",
"end_idx": "101",
"entity_id": "D051437",
"entity_type": "Disease",
"text_name": "chronic renal failure"
}
] | [
"insulin-like growth factor (IGF) I",
"IGF-I"
] | [
"end-stage renal disease",
"chronic renal failure"
] |
10201536 | A novel substitution in keratin 10 in epidermolytic hyperkeratosis. | Epidermolytic hyperkeratosis is characterized by tonofilament clumping, cytolysis, and blister formation in suprabasal keratinocytes. It has been shown that the tonofilament aggregates in these areas are composed of keratin 1 (K1) and keratin 10 (K10), and several K1 and K10 point mutations have been identified as the... | [
{
"begin_idx": "155",
"end_idx": "162",
"entity_id": "D001768",
"entity_type": "Disease",
"text_name": "blister"
},
{
"begin_idx": "38",
"end_idx": "66",
"entity_id": "D017488",
"entity_type": "Disease",
"text_name": "epidermolytic hyperkeratosis"
},
{
"begin_idx"... | [
"Yes",
"No"
] | [
true,
false
] | [
{
"begin_idx": "24",
"end_idx": "34",
"entity_id": "3858",
"entity_type": "Gene",
"text_name": "keratin 10"
},
{
"begin_idx": "284",
"end_idx": "293",
"entity_id": "3848",
"entity_type": "Gene",
"text_name": "keratin 1"
}
] | [
{
"begin_idx": "38",
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"entity_id": "D017488",
"entity_type": "Disease",
"text_name": "epidermolytic hyperkeratosis"
},
{
"begin_idx": "155",
"end_idx": "162",
"entity_id": "D001768",
"entity_type": "Disease",
"text_name": "blister"
}
] | [
"keratin 10",
"keratin 1"
] | [
"epidermolytic hyperkeratosis",
"blister"
] |
10203975 | [Gerstmann-Str ussler-Scheinker syndrome with a Pro102Leu mutation in the prion protein gene and atypical MRI findings, hyperthermia, tachycardia, and hyperhidrosis]. | A 64-year-old Japanese woman with Gerstmann-Str ussler-Scheinker syndrome (GSS) is reported. She was admitted to our hospital for progressive amnesia, twitching of the right upper limb, and difficulty in speaking and walking for 5 months. Physical examination revealed a fever, tachycardia, and hyperhidrosis without a... | [
{
"begin_idx": "311",
"end_idx": "318",
"entity_id": "D000647",
"entity_type": "Disease",
"text_name": "amnesia"
},
{
"begin_idx": "1219",
"end_idx": "1226",
"entity_id": "D001284",
"entity_type": "Disease",
"text_name": "atrophy"
},
{
"begin_idx": "568",
"end... | [
"Yes",
"No"
] | [
true,
false
] | [
{
"begin_idx": "75",
"end_idx": "88",
"entity_id": "5621",
"entity_type": "Gene",
"text_name": "prion protein"
},
{
"begin_idx": "2121",
"end_idx": "2134",
"entity_id": "5621",
"entity_type": "Gene",
"text_name": "prion protein"
}
] | [
{
"begin_idx": "1",
"end_idx": "41",
"entity_id": "D016098",
"entity_type": "Disease",
"text_name": "Gerstmann-Str ussler-Scheinker syndrome"
},
{
"begin_idx": "1219",
"end_idx": "1226",
"entity_id": "D001284",
"entity_type": "Disease",
"text_name": "atrophy"
}
] | [
"prion protein",
"prion protein"
] | [
"Gerstmann-Str ussler-Scheinker syndrome",
"atrophy"
] |
10204114 | Molecular biology of adenosine triphosphate-sensitive potassium channels. | KATP channels are a newly defined class of potassium channels based on the physical association of an ABC protein, the sulfonylurea receptor, and a K+ inward rectifier subunit. The beta-cell KATP channel is composed of SUR1, the high-affinity sulfonylurea receptor with multiple TMDs and two NBFs, and KIR6.2, a weak in... | [
{
"begin_idx": "2827",
"end_idx": "2835",
"entity_id": "D003920",
"entity_type": "Disease",
"text_name": "diabetes"
},
{
"begin_idx": "2962",
"end_idx": "2970",
"entity_id": "D003920",
"entity_type": "Disease",
"text_name": "diabetes"
},
{
"begin_idx": "2722",
... | [
"Yes",
"No"
] | [
false,
true
] | [
{
"begin_idx": "376",
"end_idx": "382",
"entity_id": "3767",
"entity_type": "Gene",
"text_name": "KIR6.2"
},
{
"begin_idx": "293",
"end_idx": "297",
"entity_id": "6833",
"entity_type": "Gene",
"text_name": "SUR1"
}
] | [
{
"begin_idx": "1298",
"end_idx": "1349",
"entity_id": "D044903",
"entity_type": "Disease",
"text_name": "persistent hyperinsulinemic hypoglycemia of infancy"
},
{
"begin_idx": "1298",
"end_idx": "1349",
"entity_id": "D044903",
"entity_type": "Disease",
"text_name": "pers... | [
"KIR6.2",
"SUR1"
] | [
"persistent hyperinsulinemic hypoglycemia of infancy",
"persistent hyperinsulinemic hypoglycemia of infancy"
] |
10204841 | Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome. | We report on the evaluation of a strategy for screening for XNP/ATR-X mutations in males with mental retardation and associated dysmorphology. Because nearly half of the mutations in this gene reported to date fall into a short 300 bp region of the transcript, we decided to focus in this region and to extend the mutat... | [
{
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"end_idx": "80",
"entity_id": "C538258",
"entity_type": "Disease",
"text_name": "ATR-X syndrome"
},
{
"begin_idx": "176",
"end_idx": "194",
"entity_id": "D008607",
"entity_type": "Disease",
"text_name": "mental retardation"
},
{
"begin_idx": "... | [
"Yes",
"No"
] | [
false,
true
] | [
{
"begin_idx": "142",
"end_idx": "151",
"entity_id": "546",
"entity_type": "Gene",
"text_name": "XNP/ATR-X"
},
{
"begin_idx": "142",
"end_idx": "151",
"entity_id": "546",
"entity_type": "Gene",
"text_name": "XNP/ATR-X"
}
] | [
{
"begin_idx": "66",
"end_idx": "80",
"entity_id": "C538258",
"entity_type": "Disease",
"text_name": "ATR-X syndrome"
},
{
"begin_idx": "543",
"end_idx": "561",
"entity_id": "D008607",
"entity_type": "Disease",
"text_name": "mental retardation"
}
] | [
"XNP/ATR-X",
"XNP/ATR-X"
] | [
"ATR-X syndrome",
"mental retardation"
] |
10205247 | Association of an apolipoprotein B gene marker with essential hypertension. | We designed an association (retrospective, case control) study aimed at evaluating associations between genetic variations of the human apolipoprotein B (apoB) gene and clinical diagnosis of essential hypertension. Our approach was to compare the distribution of the alleles of a highly polymorphic variable number of t... | [
{
"begin_idx": "62",
"end_idx": "74",
"entity_id": "D006973",
"entity_type": "Disease",
"text_name": "hypertension"
},
{
"begin_idx": "277",
"end_idx": "289",
"entity_id": "D006973",
"entity_type": "Disease",
"text_name": "hypertension"
},
{
"begin_idx": "528",
... | [
"Yes"
] | [
true
] | [
{
"begin_idx": "18",
"end_idx": "34",
"entity_id": "338",
"entity_type": "Gene",
"text_name": "apolipoprotein B"
}
] | [
{
"begin_idx": "635",
"end_idx": "648",
"entity_id": "D006973",
"entity_type": "Disease",
"text_name": "hypertensives"
}
] | [
"apolipoprotein B"
] | [
"hypertensives"
] |
10205262 | Analysis of alkaptonuria (AKU) mutations and polymorphisms reveals that the CCC sequence motif is a mutational hot spot in the homogentisate 1,2 dioxygenase gene (HGO). | We recently showed that alkaptonuria (AKU) is caused by loss-of-function mutations in the homogentisate 1,2 dioxygenase gene (HGO). Herein we describe haplotype and mutational analyses of HGO in seven new AKU pedigrees. These analyses identified two novel single-nucleotide polymorphisms (INV4+31A-->G and INV11+18A-->G... | [
{
"begin_idx": "12",
"end_idx": "24",
"entity_id": "D000474",
"entity_type": "Disease",
"text_name": "alkaptonuria"
},
{
"begin_idx": "26",
"end_idx": "29",
"entity_id": "D000474",
"entity_type": "Disease",
"text_name": "AKU"
},
{
"begin_idx": "193",
"end_idx"... | [
"Yes"
] | [
true
] | [
{
"begin_idx": "127",
"end_idx": "156",
"entity_id": "3081",
"entity_type": "Gene",
"text_name": "homogentisate 1,2 dioxygenase"
}
] | [
{
"begin_idx": "12",
"end_idx": "24",
"entity_id": "D000474",
"entity_type": "Disease",
"text_name": "alkaptonuria"
}
] | [
"homogentisate 1,2 dioxygenase"
] | [
"alkaptonuria"
] |
10205266 | Connexin46 mutations in autosomal dominant congenital cataract. | Loci for autosomal dominant "zonular pulverulent" cataract have been mapped to chromosomes 1q (CZP1) and 13q (CZP3). Here we report genetic refinement of the CZP3 locus and identify underlying mutations in the gene for gap-junction protein alpha-3 (GJA3), or connexin46 (Cx46). Linkage analysis gave a significantly pos... | [
{
"begin_idx": "174",
"end_idx": "178",
"entity_id": "C566608",
"entity_type": "Disease",
"text_name": "CZP3"
},
{
"begin_idx": "222",
"end_idx": "226",
"entity_id": "C566608",
"entity_type": "Disease",
"text_name": "CZP3"
},
{
"begin_idx": "530",
"end_idx": "... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "283",
"end_idx": "311",
"entity_id": "2700",
"entity_type": "Gene",
"text_name": "gap-junction protein alpha-3"
},
{
"begin_idx": "313",
"end_idx": "317",
"entity_id": "2700",
"entity_type": "Gene",
"text_name": "GJA3"
}
] | [
{
"begin_idx": "174",
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"entity_id": "C566608",
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"text_name": "CZP3"
},
{
"begin_idx": "114",
"end_idx": "122",
"entity_id": "D002386",
"entity_type": "Disease",
"text_name": "cataract"
}
] | [
"gap-junction protein alpha-3",
"GJA3"
] | [
"CZP3",
"cataract"
] |
10205268 | Modification of BRCA1-associated breast cancer risk by the polymorphic androgen-receptor CAG repeat. | Compared with the general population, women who have inherited a germline mutation in the BRCA1 gene have a greatly increased risk of developing breast cancer. However, there is also substantial interindividual variability in the occurrence of breast cancer among BRCA1 mutation carriers. We hypothesize that other gene... | [
{
"begin_idx": "33",
"end_idx": "46",
"entity_id": "D001943",
"entity_type": "Disease",
"text_name": "breast cancer"
},
{
"begin_idx": "246",
"end_idx": "259",
"entity_id": "D001943",
"entity_type": "Disease",
"text_name": "breast cancer"
},
{
"begin_idx": "345",
... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "71",
"end_idx": "88",
"entity_id": "367",
"entity_type": "Gene",
"text_name": "androgen-receptor"
},
{
"begin_idx": "1595",
"end_idx": "1600",
"entity_id": "672",
"entity_type": "Gene",
"text_name": "BRCA1"
}
] | [
{
"begin_idx": "33",
"end_idx": "46",
"entity_id": "D001943",
"entity_type": "Disease",
"text_name": "breast cancer"
},
{
"begin_idx": "1000",
"end_idx": "1013",
"entity_id": "D001943",
"entity_type": "Disease",
"text_name": "breast cancer"
}
] | [
"androgen-receptor",
"BRCA1"
] | [
"breast cancer",
"breast cancer"
] |
10206080 | CYP2D6 polymorphism in systemic lupus erythematosus patients. | OBJECTIVES: To determine whether patients with idiopathic systemic lupus erythematosus (SLE) are associated with impaired CYP2D6 activity and to gain insight into whether there is an association between particular CYP2D6 genotypes and susceptibility to SLE, and whether CYP2D6 polymorphism is linked to any specific cli... | [
{
"begin_idx": "23",
"end_idx": "51",
"entity_id": "D008180",
"entity_type": "Disease",
"text_name": "systemic lupus erythematosus"
},
{
"begin_idx": "120",
"end_idx": "148",
"entity_id": "D008180",
"entity_type": "Disease",
"text_name": "systemic lupus erythematosus"
}... | [
"Yes"
] | [
true
] | [
{
"begin_idx": "0",
"end_idx": "6",
"entity_id": "1565",
"entity_type": "Gene",
"text_name": "CYP2D6"
}
] | [
{
"begin_idx": "23",
"end_idx": "51",
"entity_id": "D008180",
"entity_type": "Disease",
"text_name": "systemic lupus erythematosus"
}
] | [
"CYP2D6"
] | [
"systemic lupus erythematosus"
] |
10206233 | Risk of Alzheimer's disease is associated with a very low-density lipoprotein receptor genotype in Northern Ireland. | The epsilon-4 allele of apolipoprotein E (APOE) is associated with increased risk of Alzheimer's disease (AD), but the pathogenic mechanism is unknown. The 5-repeat allele of a CGG repeat polymorphism in the 5' untranslated region of the very low-density lipoprotein receptor (VLDL-R) gene, a receptor for apoE, has bee... | [
{
"begin_idx": "8",
"end_idx": "27",
"entity_id": "D000544",
"entity_type": "Disease",
"text_name": "Alzheimer's disease"
},
{
"begin_idx": "202",
"end_idx": "221",
"entity_id": "D000544",
"entity_type": "Disease",
"text_name": "Alzheimer's disease"
},
{
"begin_id... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "49",
"end_idx": "86",
"entity_id": "7436",
"entity_type": "Gene",
"text_name": "very low-density lipoprotein receptor"
},
{
"begin_idx": "159",
"end_idx": "163",
"entity_id": "348",
"entity_type": "Gene",
"text_name": "APOE"
}
] | [
{
"begin_idx": "8",
"end_idx": "27",
"entity_id": "D000544",
"entity_type": "Disease",
"text_name": "Alzheimer's disease"
},
{
"begin_idx": "1382",
"end_idx": "1384",
"entity_id": "D000544",
"entity_type": "Disease",
"text_name": "AD"
}
] | [
"very low-density lipoprotein receptor",
"APOE"
] | [
"Alzheimer's disease",
"AD"
] |
10206237 | 14-3-3 protein eta chain gene (YWHAH) polymorphism and its genetic association with schizophrenia. | Recent genetic analyses have suggested a linkage between schizophrenia and the chromosomal region 22q12-q13. 14-3-3 protein, abundant in the brain, mediates interactions between diverse molecules of biological activities; its gene was recently mapped to chromosome 22q12.1-q13.1. We therefore investigated allele freque... | [
{
"begin_idx": "84",
"end_idx": "97",
"entity_id": "D012559",
"entity_type": "Disease",
"text_name": "schizophrenia"
},
{
"begin_idx": "156",
"end_idx": "169",
"entity_id": "D012559",
"entity_type": "Disease",
"text_name": "schizophrenia"
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{
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... | [
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] | [
true,
true
] | [
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{
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"entity_id": "1909",
"entity_type": "Gene",
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] | [
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"schizophrenics",
"schizophrenics"
] |
10206677 | Double mutation (A171T and D444H) is a common cause of profound biotinidase deficiency in children ascertained by newborn screening the the United States. Mutations in brief no. 128. Online. | Biotinidase deficiency is inherited as an antosomal recessive trait that, unless treated with pharmacologic doses of biotin, can result in neurologic and cutaneous symptoms. We have identified two new mutations in exon D of the biotinidase gene of children with profound biotinidase deficiency ascertained by newborn sc... | [
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{
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] | [
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] | [
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"entity_id": "D028921",
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"text_name": "biotinidase deficiency"
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] | [
"biotinidase"
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"biotinidase deficiency"
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10206678 | Two novel mutations of the arylsulfatase B gene in two Italian patients with severe form of mucopolysaccharidosis. Mutations in brief no. 127. Online. | Mucopolysaccharidosis type VI (MPS VI) or Maroteaux-Lamy syndrome, is a autosomal recessive disorder, due to the deficiency of the lysosomal enzyme N-acetylgalactosamine-4-sulfatase (arylsufatase B, ASB: EC 3.1.6.12). Three classical forms of the disease have been differentiated: severe, intermediate, mild. Mutational... | [
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"text_name": "Mucopolysaccharidosis type VI"
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{... | [
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"mucopolysaccharidosis"
] |
10206679 | Novel allele of the insulin receptor substrate-1 bearing two non-conservative amino acid substitutions in a patient with noninsulin-dependent diabetes mellitus. Mutations in brief no. 130. Online. | We analyzed by SSCP the complete IRS-1 coding sequence in NIDDM patient #25 D. Unique conformers corresponding to a Ser to Tyr substitution at codon 1043 (S1043Y), and to a Cys to Tyr substitution at codon 1095 (C1095Y) were detected in this patient. The results of sequential digestion with restriction enzymes indicat... | [
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{
"... | [
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"entity_id": "3667",
"entity_type": "Gene",
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] | [
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"entity_id": "D006528",
"entity_type": "Disease",
"text_name": "hepatoma"
}
] | [
"IRS-1",
"IRS-1"
] | [
"noninsulin-dependent diabetes mellitus",
"hepatoma"
] |
10206825 | Alterations of neurotransmitter-related gene expression in human and experimental portal-systemic encephalopathy. | Portal-systemic encephalopathy (PSE) is a serious neuropsychiatric condition that results from chronic liver failure and portal-systemic shunting of venous blood. PSE is particularly prevalent following treatment of portal hypertension or ascites by the TIPS procedure. Recent studies both in autopsied brain tissue fro... | [
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"entity_id": "D001523",
"entity_type": "Disease",
"text_name": "neuropsychiatric condition"
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{
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] | [
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},
{
"begin_idx": "817",
"end_idx": "847",
"entity_id": "4842",
"entity_type": "Gene",
"text_name": "neuronal nitric oxide synthas... | [
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"text_name": "Portal-systemic encephalopathy"
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{
"begin_idx": "114",
"end_idx": "144",
"entity_id": "D006501",
"entity_type": "Disease",
"text_name": "Portal-systemic encephalopath... | [
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"neuronal nitric oxide synthase",
"MAO-A",
"neuronal nitric oxide synthase",
"PTBR",
"PTBR"
] | [
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"Portal-systemic encephalopathy",
"Portal-systemic encephalopathy",
"neurotoxic",
"neuropsychiatric condition",
"chronic liver failure"
] |
10208443 | Allelic association of the MTHFR gene with schizophrenia. | [
{
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}
] | [
"MTHFR"
] | [
"schizophrenia"
] | |
10208564 | The -491AA polymorphism in the APOE gene is associated with increased plasma apoE levels in Alzheimer's disease. | Recent evidence suggests that a polymorphism in the regulatory region of the apolipoprotein E gene (APOE) is associated with an increased risk for developing Alzheimer's disease (AD) independent of that conveyed by the epsilon4 allele of APOE. Previous work by our group indicated that plasma apolipoprotein E (apoE) le... | [
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{
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] | [
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"entity_id": "D000544",
"entity_type": "Disease",
"text_name": "Alzheimer's disease"
}
] | [
"apolipoprotein E"
] | [
"Alzheimer's disease"
] |
10208576 | A new GTP-cyclohydrolase I mutation in an unusual dopa-responsive dystonia, familial form. | We found a new mutation in the GTP cyclohydrolase gene involved in dopa-responsive dystonia. We sequenced the GTP cyclohydrolase gene in a family with four siblings affected by this disorder and identified an A-T mutation in exon 2, leading to a non conservative amino acid substitution at codon 135 of the protein (Ile... | [
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"entity_type": "Disease",
"text_name": "dopa-responsive dystonia"
},
{
... | [
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] | [
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] | [
{
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"entity_type": "Gene",
"text_name": "GTP-cyclohydrolase I"
}
] | [
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"entity_id": "C538007",
"entity_type": "Disease",
"text_name": "dopa-responsive dystonia"
}
] | [
"GTP-cyclohydrolase I"
] | [
"dopa-responsive dystonia"
] |
10208848 | Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches. | Fabry disease (FD) (angiokeratoma corporis diffusum) is an X-linked inborn error of glycosphingolipid metabolism caused by defects in the lysosomal alpha-galactosidase A gene (GLA). The enzymatic defect leads to the systemic accumulation of neutral glycosphingolipids with terminal alpha-galactosyl moieties. Clinically... | [
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"entity_id": "C536711",
"entity_type": "Disease",
"text_name": "severe acroparesthesia"
},
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"entity_id": "D000794",
"entity_type": "Disease",
"text_name": "angiokeratoma"
},
{
"begin_id... | [
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] | [
true,
false
] | [
{
"begin_idx": "39",
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"text_name": "alpha-galactosidase A"
},
{
"begin_idx": "39",
"end_idx": "60",
"entity_id": "2717",
"entity_type": "Gene",
"text_name": "alpha-galactosidase A"
}
] | [
{
"begin_idx": "178",
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"entity_id": "D000795",
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"text_name": "angiokeratoma corporis diffusum"
},
{
"begin_idx": "549",
"end_idx": "562",
"entity_id": "D051437",
"entity_type": "Disease",
"text_name": "renal failure"
}
] | [
"alpha-galactosidase A",
"alpha-galactosidase A"
] | [
"angiokeratoma corporis diffusum",
"renal failure"
] |
10211478 | Recessive inheritance of a new point mutation of the PMP22 gene in Dejerine-Sottas disease. | The existence of recessive transmission of Dejerine-Sottas disease, a severe demyelinating neuropathy of childhood, has been questioned, because only heterozygous mutations of the myelin proteins P0 or PMP22 genes have been identified in virtually all patients with this phenotype. We report on a family with 3 affected... | [
{
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"entity_id": "D003711",
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"text_name": "demyelinating neuropathy"
},
{
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"entity_id": "D015417",
"entity_type": "Disease",
"text_name": "Dejerine-Sottas disease"
},
{
... | [
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] | [
true,
true
] | [
{
"begin_idx": "53",
"end_idx": "58",
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},
{
"begin_idx": "294",
"end_idx": "299",
"entity_id": "5376",
"entity_type": "Gene",
"text_name": "PMP22"
}
] | [
{
"begin_idx": "67",
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{
"begin_idx": "169",
"end_idx": "193",
"entity_id": "D003711",
"entity_type": "Disease",
"text_name": "demyelinating neuropathy"
}
] | [
"PMP22",
"PMP22"
] | [
"Dejerine-Sottas disease",
"demyelinating neuropathy"
] |
10213152 | A novel mutation in the apolipoprotein E gene (APOE*4 Pittsburgh) is associated with the risk of late-onset Alzheimer's disease. | Using a combination of polymerase chain reaction (PCR), single-strand conformation polymorphism (SSCP) and DNA sequencing techniques, we identified a unique missense mutation (T-->C) in exon 3 of the APOE gene which resulted in the substitution of pro-28 for leu-28. We screened 1118 White cases of late-onset (>60 year... | [
{
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"entity_type": "Disease",
"text_name": "Alzheimer's disease"
},
{
"begin... | [
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] | [
true
] | [
{
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"text_name": "apolipoprotein E"
}
] | [
{
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"entity_id": "D000544",
"entity_type": "Disease",
"text_name": "Alzheimer's disease"
}
] | [
"apolipoprotein E"
] | [
"Alzheimer's disease"
] |
10213175 | The -491A/T polymorphism of the Apolipoprotein E gene is associated with the ApoEepsilon4 allele and Alzheimer's disease. | Several studies have attempted to confirm the association between the recently reported polymorphism located at position -491 in the transcriptional regulatory region of the Apolipoprotein E (ApoE) gene and Alzheimer's disease (AD). Results have been inconclusive, possibly due to the use of clinically diagnosed subjec... | [
{
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"entity_id": "D000544",
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"entity_id": "D000544",
"entity_type": "Disease",
"text_name": "Alzheimer's disease"
},
{
"begin... | [
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] | [
true
] | [
{
"begin_idx": "32",
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"entity_type": "Gene",
"text_name": "Apolipoprotein E"
}
] | [
{
"begin_idx": "101",
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"entity_id": "D000544",
"entity_type": "Disease",
"text_name": "Alzheimer's disease"
}
] | [
"Apolipoprotein E"
] | [
"Alzheimer's disease"
] |
10214944 | Accelerated filament formation from tau protein with specific FTDP-17 missense mutations. | Tau is the major component of the neurofibrillar tangles that are a pathological hallmark of Alzheimers' disease. The identification of missense and splicing mutations in tau associated with the inherited frontotemporal dementia and Parkinsonism linked to chromosome 17 demonstrated that tau dysfunction can cause neuro... | [
{
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"entity_id": "D000544",
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},
{
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"entity_id": "D010302",
"entity_type": "Disease",
"text_name": "Parkinsonism"
},
{
"begin_idx": ... | [
"Yes",
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] | [
false,
false
] | [
{
"begin_idx": "62",
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},
{
"begin_idx": "62",
"end_idx": "69",
"entity_id": "4137",
"entity_type": "Gene",
"text_name": "FTDP-17"
}
] | [
{
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"text_name": "frontotemporal dementia"
},
{
"begin_idx": "480",
"end_idx": "497",
"entity_id": "D019636",
"entity_type": "Disease",
"text_name": "neurodegeneration"
}
] | [
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"FTDP-17"
] | [
"frontotemporal dementia",
"neurodegeneration"
] |
10215410 | A novel missense mutation Ile538Val in the fibroblast growth factor receptor 3 in hypochondroplasia. Mutations in brief no. 122. Online. | Hypochondroplasia and achondroplasia are skeletal dysplasias, characterized by autosomal dominant inheritance and disproportionate short stature, which occurs mainly due to growth failure of the extremities. Both dysplasias have been mapped to fibroblast growth factor receptor 3 (FGFR3) gene. For hypochondroplasia, tw... | [
{
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"entity_id": "C535662",
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},
{
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"entity_id": "C535662",
"entity_type": "Disease",
"text_name": "dysplasias"
},
{
"begin_idx": "8... | [
"Yes",
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] | [
true,
false
] | [
{
"begin_idx": "43",
"end_idx": "78",
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},
{
"begin_idx": "418",
"end_idx": "423",
"entity_id": "2261",
"entity_type": "Gene",
"text_name": "FGFR3"
}
] | [
{
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"entity_id": "C562937",
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},
{
"begin_idx": "1887",
"end_idx": "1900",
"entity_id": "D006130",
"entity_type": "Disease",
"text_name": "short stature"
}
] | [
"fibroblast growth factor receptor 3",
"FGFR3"
] | [
"hypochondroplasia",
"short stature"
] |
10215411 | Detection of four novel mutations in the iduronate-2-sulfatase gene. Mutations in brief no. 123. Online. | Hunter disease (mucopolysaccharidosis type II or MPS II) is an X-linked recessive disorder caused by the deficiency of the lysosomal enzyme iduronate-2-sulfatase (IDS) (E.C.3.1.6.13.) involved in the catabolism of mucopolysaccharides dermatan sulfate and heparan sulfate. A large variety of alterations have been detect... | [
{
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"entity_id": "D004194",
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"text_name": "Hunter disease"
},
{
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"entity_id": "D016532",
"entity_type": "Disease",
"text_name": "iduronate-2-sulfatase"
},
{
"begin_idx"... | [
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] | [
true,
true
] | [
{
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},
{
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"entity_id": "3423",
"entity_type": "Gene",
"text_name": "iduronate-2-sulfatase"
}
] | [
{
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"entity_id": "D016532",
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"text_name": "mucopolysaccharidosis type II or MPS II"
},
{
"begin_idx": "560",
"end_idx": "618",
"entity_id": "D034721",
"entity_type": "Disease",
"text_name": "and have been confir... | [
"iduronate-2-sulfatase",
"iduronate-2-sulfatase"
] | [
"mucopolysaccharidosis type II or MPS II",
"and have been confirmed by amplification refractory system"
] |
10219239 | MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia. | A novel potassium channel gene has been cloned, characterized, and associated with cardiac arrhythmia. The gene encodes MinK-related peptide 1 (MiRP1), a small integral membrane subunit that assembles with HERG, a pore-forming protein, to alter its function. Unlike channels formed only with HERG, mixed complexes resem... | [
{
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"entity_id": "D001145",
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"text_name": "cardiac arrhythmia"
},
{
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"entity_id": "D001145",
"entity_type": "Disease",
"text_name": "cardiac arrhythmia"
},
{
"begin_idx... | [
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"Yes",
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] | [
true,
true,
true,
true
] | [
{
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"text_name": "MinK-related peptide 1"
},
{
"begin_idx": "208",
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"entity_id": "9992",
"entity_type": "Gene",
"text_name": "MinK-related peptide 1"
},
{
"begin_idx":... | [
{
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"entity_id": "D014693",
"entity_type": "Disease",
"text_name": "ventricular fibrillation"
},
{
"begin_idx": "619",
"end_idx": "635",
"entity_id": "D008133",
"entity_type": "Disease",
"text_name": "long QT syndrome"
},
{
"beg... | [
"MinK-related peptide 1",
"MinK-related peptide 1",
"MinK-related peptide 1",
"HERG"
] | [
"ventricular fibrillation",
"long QT syndrome",
"arrhythmia",
"cardiac arrhythmia"
] |
10220141 | Dominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemia. | Mutations in the 6-pyruvoyltetrahydropterin synthase (PTPS) gene result in persistent hyperphenylalaninemia and severe catecholamine and serotonin deficiencies. We investigated at the DNA level a family with a PTPS-deficient child presenting with an unusual form of transient hyperphenylalaninemia. The patient exhibite... | [
{
"begin_idx": "374",
"end_idx": "388",
"entity_id": "C535325",
"entity_type": "Disease",
"text_name": "PTPS-deficient"
},
{
"begin_idx": "131",
"end_idx": "162",
"entity_id": "D010661",
"entity_type": "Disease",
"text_name": "transient hyperphenylalaninemia"
},
{
... | [
"Yes",
"No"
] | [
false,
true
] | [
{
"begin_idx": "76",
"end_idx": "111",
"entity_id": "5805",
"entity_type": "Gene",
"text_name": "6-pyruvoyltetrahydropterin synthase"
},
{
"begin_idx": "738",
"end_idx": "742",
"entity_id": "5805",
"entity_type": "Gene",
"text_name": "PTPS"
}
] | [
{
"begin_idx": "374",
"end_idx": "388",
"entity_id": "C535325",
"entity_type": "Disease",
"text_name": "PTPS-deficient"
},
{
"begin_idx": "430",
"end_idx": "461",
"entity_id": "D010661",
"entity_type": "Disease",
"text_name": "transient hyperphenylalaninemia"
}
] | [
"6-pyruvoyltetrahydropterin synthase",
"PTPS"
] | [
"PTPS-deficient",
"transient hyperphenylalaninemia"
] |
10220152 | Identification of 6 new mutations in the iduronate sulfatase gene. Mutation in brief no. 233. Online. | Mucopolysaccharidosis type II (Hunter syndrome) is an X-linked lysosomal storage disorder caused by a deficiency of the enzyme iduronate-2-sulfatase. We sequenced genomic DNA and RT-PCR products in the iduronate sulfatase (IDS) gene in 6 unrelated patients with Hunter syndrome to assess genotype/phenotype relationship... | [
{
"begin_idx": "156",
"end_idx": "191",
"entity_id": "D016464",
"entity_type": "Disease",
"text_name": "X-linked lysosomal storage disorder"
},
{
"begin_idx": "102",
"end_idx": "131",
"entity_id": "D016532",
"entity_type": "Disease",
"text_name": "Mucopolysaccharidosis ty... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "229",
"end_idx": "250",
"entity_id": "3423",
"entity_type": "Gene",
"text_name": "iduronate-2-sulfatase"
},
{
"begin_idx": "325",
"end_idx": "328",
"entity_id": "3423",
"entity_type": "Gene",
"text_name": "IDS"
}
] | [
{
"begin_idx": "102",
"end_idx": "131",
"entity_id": "D016532",
"entity_type": "Disease",
"text_name": "Mucopolysaccharidosis type II"
},
{
"begin_idx": "156",
"end_idx": "191",
"entity_id": "D016464",
"entity_type": "Disease",
"text_name": "X-linked lysosomal storage dis... | [
"iduronate-2-sulfatase",
"IDS"
] | [
"Mucopolysaccharidosis type II",
"X-linked lysosomal storage disorder"
] |
10220154 | Identification of mutations in the galactose-1-phosphate uridyltransferase (GALT) gene in 16 Turkish patients with galactosemia, including a novel mutation of F294Y. Mutation in brief no. 235. Online. | Classical galactosemia caused by deficiency of galactose-1-phosphate uridyltransferase (GALT) is a severe autosomal recessive disorder. We report here molecular analysis of 16 unrelated Turkish galactosemia index cases without GALT activity. Almost 84% of all mutant alleles were identified in this study. The most comm... | [
{
"begin_idx": "115",
"end_idx": "127",
"entity_id": "D005693",
"entity_type": "Disease",
"text_name": "galactosemia"
},
{
"begin_idx": "201",
"end_idx": "223",
"entity_id": "D005693",
"entity_type": "Disease",
"text_name": "Classical galactosemia"
},
{
"begin_idx... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "35",
"end_idx": "74",
"entity_id": "2592",
"entity_type": "Gene",
"text_name": "galactose-1-phosphate uridyltransferase"
},
{
"begin_idx": "35",
"end_idx": "74",
"entity_id": "2592",
"entity_type": "Gene",
"text_name": "galactose-1-phosphate uridyltransfer... | [
{
"begin_idx": "234",
"end_idx": "287",
"entity_id": "D005693",
"entity_type": "Disease",
"text_name": "deficiency of galactose-1-phosphate uridyltransferase"
},
{
"begin_idx": "307",
"end_idx": "335",
"entity_id": "D030342",
"entity_type": "Disease",
"text_name": "autoso... | [
"galactose-1-phosphate uridyltransferase",
"galactose-1-phosphate uridyltransferase"
] | [
"deficiency of galactose-1-phosphate uridyltransferase",
"autosomal recessive disorder"
] |
10220155 | Three novel mutations in the gap junction beta 1 (GJB1) gene coding region identified in Charcot-Marie-Tooth patients of Greek origin: T55I, R164Q, V120E. Mutation in brief no 236. Online. | Charcot-Marie-Tooth (CMT) disease type CMTX has been linked with mutations in GJB1, a gene on chromosome X coding for a gap junction protein, Connexin 32. We screened the GJB1 gene for mutations by SSCP analysis and sequencing of candidate regions, in five unrelated CMT affected individuals, members of families presen... | [
{
"begin_idx": "228",
"end_idx": "232",
"entity_id": "C535919",
"entity_type": "Disease",
"text_name": "CMTX"
},
{
"begin_idx": "574",
"end_idx": "578",
"entity_id": "C535919",
"entity_type": "Disease",
"text_name": "CMTX"
},
{
"begin_idx": "89",
"end_idx": "1... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "29",
"end_idx": "48",
"entity_id": "2705",
"entity_type": "Gene",
"text_name": "gap junction beta 1"
},
{
"begin_idx": "360",
"end_idx": "364",
"entity_id": "2705",
"entity_type": "Gene",
"text_name": "GJB1"
}
] | [
{
"begin_idx": "228",
"end_idx": "232",
"entity_id": "C535919",
"entity_type": "Disease",
"text_name": "CMTX"
},
{
"begin_idx": "189",
"end_idx": "208",
"entity_id": "D002607",
"entity_type": "Disease",
"text_name": "Charcot-Marie-Tooth"
}
] | [
"gap junction beta 1",
"GJB1"
] | [
"CMTX",
"Charcot-Marie-Tooth"
] |
10220498 | Association of K-ras mutations with p16 methylation in human colon cancer. | BACKGROUND _ AIMS: K-ras mutations are early genetic changes in colon cancer. p16, a tumor-suppressor gene, is inactivated in neoplasms by mutation, deletion, or methylation. The aims of this study were to determine p16 methylation status and its possible association with K-ras mutations in human colon cancer. METHODS... | [
{
"begin_idx": "1044",
"end_idx": "1052",
"entity_id": "D000236",
"entity_type": "Disease",
"text_name": "adenomas"
},
{
"begin_idx": "1164",
"end_idx": "1172",
"entity_id": "D000236",
"entity_type": "Disease",
"text_name": "adenomas"
},
{
"begin_idx": "1240",
... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "15",
"end_idx": "20",
"entity_id": "3845",
"entity_type": "Gene",
"text_name": "K-ras"
},
{
"begin_idx": "153",
"end_idx": "156",
"entity_id": "1029",
"entity_type": "Gene",
"text_name": "p16"
}
] | [
{
"begin_idx": "1022",
"end_idx": "1035",
"entity_id": "D003110",
"entity_type": "Disease",
"text_name": "colon cancers"
},
{
"begin_idx": "160",
"end_idx": "165",
"entity_id": "D009369",
"entity_type": "Disease",
"text_name": "tumor"
}
] | [
"K-ras",
"p16"
] | [
"colon cancers",
"tumor"
] |
10220506 | Mutations in JAGGED1 gene are predominantly sporadic in Alagille syndrome. | BACKGROUNDS _ AIMS: Mutations in the JAGGED1 gene are responsible for the Alagille syndrome, an autosomal dominant disorder characterized by neonatal jaundice, intrahepatic cholestasis, and developmental disorders affecting the liver, heart, vertebrae, eyes, and face. We screened a large group of patients for mutation... | [
{
"begin_idx": "265",
"end_idx": "288",
"entity_id": "D002658",
"entity_type": "Disease",
"text_name": "developmental disorders"
},
{
"begin_idx": "235",
"end_idx": "259",
"entity_id": "D002780",
"entity_type": "Disease",
"text_name": "intrahepatic cholestasis"
},
{
... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "13",
"end_idx": "20",
"entity_id": "182",
"entity_type": "Gene",
"text_name": "JAGGED1"
},
{
"begin_idx": "1082",
"end_idx": "1089",
"entity_id": "182",
"entity_type": "Gene",
"text_name": "JAGGED1"
}
] | [
{
"begin_idx": "56",
"end_idx": "73",
"entity_id": "D016738",
"entity_type": "Disease",
"text_name": "Alagille syndrome"
},
{
"begin_idx": "235",
"end_idx": "259",
"entity_id": "D002780",
"entity_type": "Disease",
"text_name": "intrahepatic cholestasis"
}
] | [
"JAGGED1",
"JAGGED1"
] | [
"Alagille syndrome",
"intrahepatic cholestasis"
] |
10220507 | Involvement of transporter associated with antigen processing 2 (TAP2) gene polymorphisms in hepatitis C virus infection. | BACKGROUND _ AIMS: Transporter associated with antigen processing (TAP) has essential roles in the antigen-presenting systems, translocating antigenic peptides from the cytosol into the endoplasmic reticulum. The aim of this study was to clarify whether TAP polymorphisms are involved in hepatitis C virus (HCV) infecti... | [
{
"begin_idx": "93",
"end_idx": "120",
"entity_id": "D006526",
"entity_type": "Disease",
"text_name": "hepatitis C virus infection"
},
{
"begin_idx": "410",
"end_idx": "443",
"entity_id": "D006526",
"entity_type": "Disease",
"text_name": "hepatitis C virus (HCV) infection... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "65",
"end_idx": "69",
"entity_id": "6891",
"entity_type": "Gene",
"text_name": "TAP2"
},
{
"begin_idx": "1442",
"end_idx": "1446",
"entity_id": "6891",
"entity_type": "Gene",
"text_name": "TAP2"
}
] | [
{
"begin_idx": "410",
"end_idx": "443",
"entity_id": "D006526",
"entity_type": "Disease",
"text_name": "hepatitis C virus (HCV) infection"
},
{
"begin_idx": "1307",
"end_idx": "1310",
"entity_id": "D008107",
"entity_type": "Disease",
"text_name": "CLD"
}
] | [
"TAP2",
"TAP2"
] | [
"hepatitis C virus (HCV) infection",
"CLD"
] |
10221692 | Androgen receptor gene mutations in 46,XY females with germ cell tumours. | We present clinical findings and molecular characterization in two patients previously diagnosed as 46,XY female gonadal dysgenesis with germ cell tumour. Both patients showed a female general phenotype with unambiguously female external genitalia and primary amenorrhoea compatible with complete androgen insensitivity... | [
{
"begin_idx": "334",
"end_idx": "345",
"entity_id": "C537962",
"entity_type": "Disease",
"text_name": "amenorrhoea"
},
{
"begin_idx": "459",
"end_idx": "471",
"entity_id": "D004407",
"entity_type": "Disease",
"text_name": "dysgerminoma"
},
{
"begin_idx": "785",
... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "0",
"end_idx": "17",
"entity_id": "367",
"entity_type": "Gene",
"text_name": "Androgen receptor"
},
{
"begin_idx": "1411",
"end_idx": "1413",
"entity_id": "367",
"entity_type": "Gene",
"text_name": "AR"
}
] | [
{
"begin_idx": "362",
"end_idx": "402",
"entity_id": "D013734",
"entity_type": "Disease",
"text_name": "complete androgen insensitivity syndrome"
},
{
"begin_idx": "1158",
"end_idx": "1176",
"entity_id": "D018567",
"entity_type": "Disease",
"text_name": "male breast cance... | [
"Androgen receptor",
"AR"
] | [
"complete androgen insensitivity syndrome",
"male breast cancer"
] |
10221770 | An androgen receptor mutation in the direct vicinity of the proposed C-terminal alpha-helix of the ligand binding domain containing the AF-2 transcriptional activating function core is associated with complete androgen insensitivity. | Subjects with androgen insensitivity syndromes (AIS) are characterized by a 46, XY karyotype, presence of testes, normal or elevated androgen levels in blood, and impairment of the usual response to androgens associated with various aberrations of male differentiation and virilization ranging from slightly undervirili... | [
{
"begin_idx": "201",
"end_idx": "232",
"entity_id": "D013734",
"entity_type": "Disease",
"text_name": "complete androgen insensitivity"
},
{
"begin_idx": "248",
"end_idx": "280",
"entity_id": "D013734",
"entity_type": "Disease",
"text_name": "androgen insensitivity syndr... | [
"Yes"
] | [
true
] | [
{
"begin_idx": "3",
"end_idx": "20",
"entity_id": "367",
"entity_type": "Gene",
"text_name": "androgen receptor"
}
] | [
{
"begin_idx": "248",
"end_idx": "280",
"entity_id": "D013734",
"entity_type": "Disease",
"text_name": "androgen insensitivity syndromes"
}
] | [
"androgen receptor"
] | [
"androgen insensitivity syndromes"
] |
10223192 | Relationship of beta-catenin and Bcl-2 expression to sulindac-induced regression of intestinal tumors in Min mice. | Non-steroidal anti-inflammatory drugs (NSAIDs) can cause regression of early intestinal tumors and although this is believed to involve cyclooxygenase-2 and apoptosis, the molecular mechanisms remain unclear. Cytoplasmic and nuclear beta-catenin are overexpressed in many of these lesions and Bcl-2, which inhibits apop... | [
{
"begin_idx": "854",
"end_idx": "862",
"entity_id": "D000236",
"entity_type": "Disease",
"text_name": "adenomas"
},
{
"begin_idx": "1753",
"end_idx": "1761",
"entity_id": "D000236",
"entity_type": "Disease",
"text_name": "adenomas"
},
{
"begin_idx": "663",
"e... | [
"Yes",
"Yes",
"Yes",
"Yes",
"Yes",
"No",
"No",
"No",
"No",
"No"
] | [
true,
true,
true,
false,
true,
false,
false,
false,
false,
false
] | [
{
"begin_idx": "16",
"end_idx": "28",
"entity_id": "1499",
"entity_type": "Gene",
"text_name": "beta-catenin"
},
{
"begin_idx": "33",
"end_idx": "38",
"entity_id": "596",
"entity_type": "Gene",
"text_name": "Bcl-2"
},
{
"begin_idx": "16",
"end_idx": "28",
... | [
{
"begin_idx": "854",
"end_idx": "862",
"entity_id": "D000236",
"entity_type": "Disease",
"text_name": "adenomas"
},
{
"begin_idx": "854",
"end_idx": "862",
"entity_id": "D000236",
"entity_type": "Disease",
"text_name": "adenomas"
},
{
"begin_idx": "84",
"end_... | [
"beta-catenin",
"Bcl-2",
"beta-catenin",
"Bcl-2",
"Bcl-2",
"beta-catenin",
"beta-catenin",
"beta-catenin",
"beta-catenin",
"Bcl-2"
] | [
"adenomas",
"adenomas",
"intestinal tumors",
"Colonic tumors",
"intestinal tumors",
"tumor",
"colonic lesions",
"colonic lesions",
"Colonic tumors",
"tumor"
] |
10223196 | High frequency of codon 61 K-ras A-->T transversions in lung and Harderian gland neoplasms of B6C3F1 mice exposed to chloroprene (2-chloro-1,3-butadiene) for 2 years, and comparisons with the structurally related chemicals isoprene and 1,3-butadiene. | Chloroprene is the 2-chloro analog of 1,3-butadiene, a potent carcinogen in laboratory animals. Following 2 years of inhalation exposure to 12.8, 32 or 80 p.p.m. chloroprene, increased incidences of lung and Harderian gland (HG) neoplasms were observed in B6C3F1 mice at all exposure concentrations. The present study w... | [
{
"begin_idx": "677",
"end_idx": "698",
"entity_id": "D008175",
"entity_type": "Disease",
"text_name": "lung and HG neoplasms"
},
{
"begin_idx": "760",
"end_idx": "774",
"entity_id": "D008175",
"entity_type": "Disease",
"text_name": "lung neoplasms"
},
{
"begin_id... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "27",
"end_idx": "32",
"entity_id": "3845",
"entity_type": "Gene",
"text_name": "K-ras"
},
{
"begin_idx": "1109",
"end_idx": "1114",
"entity_id": "3845",
"entity_type": "Gene",
"text_name": "K-ras"
}
] | [
{
"begin_idx": "809",
"end_idx": "835",
"entity_id": "D008175",
"entity_type": "Disease",
"text_name": "spontaneous lung neoplasms"
},
{
"begin_idx": "459",
"end_idx": "489",
"entity_id": "D009369",
"entity_type": "Disease",
"text_name": "Harderian gland (HG) neoplasms"
... | [
"K-ras",
"K-ras"
] | [
"spontaneous lung neoplasms",
"Harderian gland (HG) neoplasms"
] |
10224407 | Promoter polymorphism in the candidate genes, IL-4, IL-9, TGF-beta1, for atopy and asthma. | This paper will review genetic variations in the structure of three important candidate genes with varying effects in atopy and asthma that may have significant overall susceptibility associations in relation to the development of atopy and asthma. The three cytokine genes involved are interleukin (IL)-4, IL-9 and tra... | [
{
"begin_idx": "73",
"end_idx": "78",
"entity_id": "C564133",
"entity_type": "Disease",
"text_name": "atopy"
},
{
"begin_idx": "209",
"end_idx": "214",
"entity_id": "C564133",
"entity_type": "Disease",
"text_name": "atopy"
},
{
"begin_idx": "322",
"end_idx": "... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "52",
"end_idx": "56",
"entity_id": "3578",
"entity_type": "Gene",
"text_name": "IL-9"
},
{
"begin_idx": "434",
"end_idx": "439",
"entity_id": "3779",
"entity_type": "Gene",
"text_name": "beta1"
}
] | [
{
"begin_idx": "83",
"end_idx": "89",
"entity_id": "D001249",
"entity_type": "Disease",
"text_name": "asthma"
},
{
"begin_idx": "332",
"end_idx": "338",
"entity_id": "D001249",
"entity_type": "Disease",
"text_name": "asthma"
}
] | [
"IL-9",
"beta1"
] | [
"asthma",
"asthma"
] |
10227647 | A DLST genotype associated with reduced risk for Alzheimer's disease. | Recent studies suggest that variants of the DLST gene alter the risk of AD. DLST encodes the core subunit of the mitochondrial alpha-ketoglutarate dehydrogenase complex, which is deficient in AD. The authors report that in 247 US white subjects, homozygosity for DLST A19,117, T19,183 was associated with a reduced risk... | [
{
"begin_idx": "49",
"end_idx": "68",
"entity_id": "D000544",
"entity_type": "Disease",
"text_name": "Alzheimer's disease"
},
{
"begin_idx": "142",
"end_idx": "144",
"entity_id": "D000544",
"entity_type": "Disease",
"text_name": "AD"
},
{
"begin_idx": "249",
"... | [
"Yes",
"No"
] | [
true,
false
] | [
{
"begin_idx": "2",
"end_idx": "6",
"entity_id": "1743",
"entity_type": "Gene",
"text_name": "DLST"
},
{
"begin_idx": "495",
"end_idx": "509",
"entity_id": "348",
"entity_type": "Gene",
"text_name": "apolipoprotein"
}
] | [
{
"begin_idx": "49",
"end_idx": "68",
"entity_id": "D000544",
"entity_type": "Disease",
"text_name": "Alzheimer's disease"
},
{
"begin_idx": "249",
"end_idx": "264",
"entity_id": "D000544",
"entity_type": "Disease",
"text_name": "deficient in AD"
}
] | [
"DLST",
"apolipoprotein"
] | [
"Alzheimer's disease",
"deficient in AD"
] |
10229804 | CDw150 associates with src-homology 2-containing inositol phosphatase and modulates CD95-mediated apoptosis. | CDw150, a receptor up-regulated on activated T or B lymphocytes, has a key role in regulating B cell proliferation. Patients with X-linked lymphoproliferative disease have mutations in a gene encoding a protein, DSHP/SAP, which interacts with CDw150 and is expressed in B cells. Here we show that CDw150 on B cells asso... | [
{
"begin_idx": "239",
"end_idx": "275",
"entity_id": "D008232",
"entity_type": "Disease",
"text_name": "X-linked lymphoproliferative disease"
},
{
"begin_idx": "1353",
"end_idx": "1389",
"entity_id": "D008232",
"entity_type": "Disease",
"text_name": "X-linked lymphoprolif... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "321",
"end_idx": "325",
"entity_id": "4068",
"entity_type": "Gene",
"text_name": "DSHP"
},
{
"begin_idx": "839",
"end_idx": "845",
"entity_id": "6504",
"entity_type": "Gene",
"text_name": "CDw150"
}
] | [
{
"begin_idx": "239",
"end_idx": "275",
"entity_id": "D008232",
"entity_type": "Disease",
"text_name": "X-linked lymphoproliferative disease"
},
{
"begin_idx": "1353",
"end_idx": "1389",
"entity_id": "D008232",
"entity_type": "Disease",
"text_name": "X-linked lymphoprolif... | [
"DSHP",
"CDw150"
] | [
"X-linked lymphoproliferative disease",
"X-linked lymphoproliferative disease"
] |
10231340 | Polymorphisms of the endothelial nitric oxide synthase gene - no consistent association with myocardial infarction in the ECTIM study. | BACKGROUND: Our aim in the present study was to determine whether endothelial NO synthase gene (ecNOS) polymorphisms are associated with myocardial infarction (MI). METHODS: Forty chromosomes from patients with MI were screened for polymorphisms of the ecNOS gene using polymerase chain reaction-single-strand conformat... | [
{
"begin_idx": "93",
"end_idx": "114",
"entity_id": "D009203",
"entity_type": "Disease",
"text_name": "myocardial infarction"
},
{
"begin_idx": "272",
"end_idx": "293",
"entity_id": "D009203",
"entity_type": "Disease",
"text_name": "myocardial infarction"
},
{
"be... | [
"Yes"
] | [
true
] | [
{
"begin_idx": "21",
"end_idx": "54",
"entity_id": "4846",
"entity_type": "Gene",
"text_name": "endothelial nitric oxide synthase"
}
] | [
{
"begin_idx": "93",
"end_idx": "114",
"entity_id": "D009203",
"entity_type": "Disease",
"text_name": "myocardial infarction"
}
] | [
"endothelial nitric oxide synthase"
] | [
"myocardial infarction"
] |
10231446 | Glucose transporter (GLUT1) allele (XbaI-) associated with nephropathy in non-insulin-dependent diabetes mellitus. | BACKGROUND: Although multiple factors contribute to the initiation and progression of diabetic nephropathy (DN), hyperglycemia and genetic predisposition are two major components implicated in the development of DN. Several pieces of experimental evidence suggest that glucose transporter (GLUT1) activity is an importa... | [
{
"begin_idx": "897",
"end_idx": "908",
"entity_id": "D000419",
"entity_type": "Disease",
"text_name": "albuminuria"
},
{
"begin_idx": "997",
"end_idx": "1005",
"entity_id": "D003920",
"entity_type": "Disease",
"text_name": "diabetes"
},
{
"begin_idx": "74",
"... | [
"Yes",
"No"
] | [
true,
false
] | [
{
"begin_idx": "21",
"end_idx": "26",
"entity_id": "6513",
"entity_type": "Gene",
"text_name": "GLUT1"
},
{
"begin_idx": "1247",
"end_idx": "1252",
"entity_id": "6513",
"entity_type": "Gene",
"text_name": "GLUT1"
}
] | [
{
"begin_idx": "925",
"end_idx": "948",
"entity_id": "D007674",
"entity_type": "Disease",
"text_name": "impaired renal function"
},
{
"begin_idx": "897",
"end_idx": "908",
"entity_id": "D000419",
"entity_type": "Disease",
"text_name": "albuminuria"
}
] | [
"GLUT1",
"GLUT1"
] | [
"impaired renal function",
"albuminuria"
] |
10231640 | Indomethacin inhibits expansion of experimental aortic aneurysms via inhibition of the cox2 isoform of cyclooxygenase. | PURPOSE: Cyclooxygenase, either the cox1 or cox2 isoform, controls synthesis of prostaglandin E2 (PGE2), which regulates expression of matrix metalloprotease-9 (MMP-9). PGE2 and MMP-9 are elevated in aortic aneurysms. The mechanisms and time course of the inhibition of aneurysm expansion with a nonspecific cyclooxygen... | [
{
"begin_idx": "389",
"end_idx": "397",
"entity_id": "D000783",
"entity_type": "Disease",
"text_name": "aneurysm"
},
{
"begin_idx": "1006",
"end_idx": "1015",
"entity_id": "D000783",
"entity_type": "Disease",
"text_name": "aneurysms"
},
{
"begin_idx": "1869",
... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "254",
"end_idx": "278",
"entity_id": "4318",
"entity_type": "Gene",
"text_name": "matrix metalloprotease-9"
},
{
"begin_idx": "1567",
"end_idx": "1571",
"entity_id": "4513",
"entity_type": "Gene",
"text_name": "cox2"
}
] | [
{
"begin_idx": "48",
"end_idx": "64",
"entity_id": "D001014",
"entity_type": "Disease",
"text_name": "aortic aneurysms"
},
{
"begin_idx": "319",
"end_idx": "335",
"entity_id": "D001014",
"entity_type": "Disease",
"text_name": "aortic aneurysms"
}
] | [
"matrix metalloprotease-9",
"cox2"
] | [
"aortic aneurysms",
"aortic aneurysms"
] |
10232408 | Squamous cell carcinoma in a family with dominant dystrophic epidermolysis bullosa: a molecular genetic study. | Squamous cell carcinoma in a family with dominant dystrophic epidermolysis bullosa: a molecular genetic study Squamous cell carcinoma (SCC) is a frequent complication in the severe, recessively inherited forms of dystrophic epidermolysis bullosa (RDEB), however, only rarely reported in dominant DEB. Although the SCCs ... | [
{
"begin_idx": "669",
"end_idx": "673",
"entity_id": "C535956",
"entity_type": "Disease",
"text_name": "DDEB"
},
{
"begin_idx": "745",
"end_idx": "749",
"entity_id": "C535956",
"entity_type": "Disease",
"text_name": "DDEB"
},
{
"begin_idx": "1242",
"end_idx": ... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "868",
"end_idx": "874",
"entity_id": "1294",
"entity_type": "Gene",
"text_name": "COL7A1"
},
{
"begin_idx": "868",
"end_idx": "874",
"entity_id": "1294",
"entity_type": "Gene",
"text_name": "COL7A1"
}
] | [
{
"begin_idx": "669",
"end_idx": "673",
"entity_id": "C535956",
"entity_type": "Disease",
"text_name": "DDEB"
},
{
"begin_idx": "796",
"end_idx": "799",
"entity_id": "D002294",
"entity_type": "Disease",
"text_name": "SCC"
}
] | [
"COL7A1",
"COL7A1"
] | [
"DDEB",
"SCC"
] |
10233369 | Risk of venous thromboembolism associated with the common hereditary haemochromatosis Hfe gene (C282Y) mutation. | A high prevalence of a common mutation in the Hfe gene (C282Y) has recently been reported in patients with the factor V Leiden mutation and a history of thrombosis. The aim of this study was to estimate the relative risk of venous thromboembolism in a large case-control study. 56/481 patients (11.6%) and 57/497 contro... | [
{
"begin_idx": "266",
"end_idx": "276",
"entity_id": "D013927",
"entity_type": "Disease",
"text_name": "thrombosis"
},
{
"begin_idx": "993",
"end_idx": "1010",
"entity_id": "D019851",
"entity_type": "Disease",
"text_name": "venous thrombosis"
},
{
"begin_idx": "58... | [
"Yes",
"No"
] | [
true,
false
] | [
{
"begin_idx": "86",
"end_idx": "89",
"entity_id": "3077",
"entity_type": "Gene",
"text_name": "Hfe"
},
{
"begin_idx": "1032",
"end_idx": "1047",
"entity_id": "2153",
"entity_type": "Gene",
"text_name": "factor V Leiden"
}
] | [
{
"begin_idx": "8",
"end_idx": "30",
"entity_id": "D054556",
"entity_type": "Disease",
"text_name": "venous thromboembolism"
},
{
"begin_idx": "58",
"end_idx": "85",
"entity_id": "D030342",
"entity_type": "Disease",
"text_name": "hereditary haemochromatosis"
}
] | [
"Hfe",
"factor V Leiden"
] | [
"venous thromboembolism",
"hereditary haemochromatosis"
] |
10233432 | Homozygous Cys542-->Arg substitution in GPIIIa in a Swiss patient with type I Glanzmann's thrombasthenia. | Glanzmann's thrombasthenia (GT) arises from a qualitative or quantitative defect in the GPIIb-IIIa complex (integrin alphaIIbbeta3), the mediator of platelet aggregation. We describe a patient in whom clinical and laboratory findings typical of type I GT were found together with a second pathology involving neurologic... | [
{
"begin_idx": "255",
"end_idx": "275",
"entity_id": "D001791",
"entity_type": "Disease",
"text_name": "platelet aggregation"
},
{
"begin_idx": "78",
"end_idx": "104",
"entity_id": "D013915",
"entity_type": "Disease",
"text_name": "Glanzmann's thrombasthenia"
},
{
... | [
"Yes",
"No"
] | [
true,
false
] | [
{
"begin_idx": "40",
"end_idx": "46",
"entity_id": "3690",
"entity_type": "Gene",
"text_name": "GPIIIa"
},
{
"begin_idx": "1481",
"end_idx": "1487",
"entity_id": "3690",
"entity_type": "Gene",
"text_name": "GPIIIa"
}
] | [
{
"begin_idx": "78",
"end_idx": "104",
"entity_id": "D013915",
"entity_type": "Disease",
"text_name": "Glanzmann's thrombasthenia"
},
{
"begin_idx": "255",
"end_idx": "275",
"entity_id": "D001791",
"entity_type": "Disease",
"text_name": "platelet aggregation"
}
] | [
"GPIIIa",
"GPIIIa"
] | [
"Glanzmann's thrombasthenia",
"platelet aggregation"
] |
10234007 | Altered formation of hemichannels and gap junction channels caused by C-terminal connexin-32 mutations. | Hexamers of connexins (Cxs) form hemichannels that dock tightly in series via their extracellular domains to give rise to gap junction channels. Here we examined the ability of a variety of C-terminal Cx32 mutations, most of which have been identified in X-linked Charcot-Marie-Tooth disease, to form hemichannels and t... | [
{
"begin_idx": "359",
"end_idx": "395",
"entity_id": "C535919",
"entity_type": "Disease",
"text_name": "X-linked Charcot-Marie-Tooth disease"
},
{
"begin_idx": "81",
"end_idx": "92",
"entity_id": "2705",
"entity_type": "Gene",
"text_name": "connexin-32"
},
{
"begi... | [
"Yes"
] | [
true
] | [
{
"begin_idx": "81",
"end_idx": "92",
"entity_id": "2705",
"entity_type": "Gene",
"text_name": "connexin-32"
}
] | [
{
"begin_idx": "359",
"end_idx": "395",
"entity_id": "C535919",
"entity_type": "Disease",
"text_name": "X-linked Charcot-Marie-Tooth disease"
}
] | [
"connexin-32"
] | [
"X-linked Charcot-Marie-Tooth disease"
] |
10234502 | Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations. | Cowden disease (CD) is characterised by multiple hamartomas in a variety of tissues. The pathological hallmark is the presence of a number of trichilemmomas. Several neurological symptoms are also part of CD with megalencephaly and Lhermitte-Duclos disease (LDD) as the most important features. Early recognition of CD ... | [
{
"begin_idx": "1295",
"end_idx": "1319",
"entity_id": "D001941",
"entity_type": "Disease",
"text_name": "malignant breast disease"
},
{
"begin_idx": "503",
"end_idx": "516",
"entity_id": "D001943",
"entity_type": "Disease",
"text_name": "Breast cancer"
},
{
"begi... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "713",
"end_idx": "718",
"entity_id": "5728",
"entity_type": "Gene",
"text_name": "MMAC1"
},
{
"begin_idx": "6",
"end_idx": "10",
"entity_id": "5728",
"entity_type": "Gene",
"text_name": "PTEN"
}
] | [
{
"begin_idx": "336",
"end_idx": "360",
"entity_id": "D006223",
"entity_type": "Disease",
"text_name": "Lhermitte-Duclos disease"
},
{
"begin_idx": "1295",
"end_idx": "1319",
"entity_id": "D001941",
"entity_type": "Disease",
"text_name": "malignant breast disease"
}
] | [
"MMAC1",
"PTEN"
] | [
"Lhermitte-Duclos disease",
"malignant breast disease"
] |
10234611 | Molecular heterogeneity of Krabbe disease. | Krabbe disease (globoid cell leukodystrophy) is an autosomal recessive neurodegenerative disorder that affects both the central and peripheral nervous system due to an enzymatic defect of galactocerebrosidase (GALC). Following its cloning, many mutations in the galactocerebrosidase gene have been reported, but the cor... | [
{
"begin_idx": "27",
"end_idx": "41",
"entity_id": "D007965",
"entity_type": "Disease",
"text_name": "Krabbe disease"
},
{
"begin_idx": "43",
"end_idx": "57",
"entity_id": "D007965",
"entity_type": "Disease",
"text_name": "Krabbe disease"
},
{
"begin_idx": "59",
... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "231",
"end_idx": "251",
"entity_id": "2581",
"entity_type": "Gene",
"text_name": "galactocerebrosidase"
},
{
"begin_idx": "978",
"end_idx": "982",
"entity_id": "2581",
"entity_type": "Gene",
"text_name": "GALC"
}
] | [
{
"begin_idx": "211",
"end_idx": "251",
"entity_id": "D007965",
"entity_type": "Disease",
"text_name": "enzymatic defect of galactocerebrosidase"
},
{
"begin_idx": "94",
"end_idx": "140",
"entity_id": "D020271",
"entity_type": "Disease",
"text_name": "autosomal recessive ... | [
"galactocerebrosidase",
"GALC"
] | [
"enzymatic defect of galactocerebrosidase",
"autosomal recessive neurodegenerative disorder"
] |
10319582 | Germline mutations of E-cadherin gene in Korean familial gastric cancer patients. | Gastric cancer is the most common cancer in Korea. Germline mutations of the E-cadherin gene have recently been identified in familial gastric cancer patients. We screened five Korean familial gastric cancer patients to investigate germline mutations of the E-cadherin gene. These patients fulfilled the following crite... | [
{
"begin_idx": "116",
"end_idx": "122",
"entity_id": "D009369",
"entity_type": "Disease",
"text_name": "cancer"
},
{
"begin_idx": "41",
"end_idx": "71",
"entity_id": "D013274",
"entity_type": "Disease",
"text_name": "Korean familial gastric cancer"
},
{
"begin_idx... | [
"Yes",
"No"
] | [
true,
false
] | [
{
"begin_idx": "22",
"end_idx": "32",
"entity_id": "999",
"entity_type": "Gene",
"text_name": "E-cadherin"
},
{
"begin_idx": "159",
"end_idx": "169",
"entity_id": "999",
"entity_type": "Gene",
"text_name": "E-cadherin"
}
] | [
{
"begin_idx": "41",
"end_idx": "71",
"entity_id": "D013274",
"entity_type": "Disease",
"text_name": "Korean familial gastric cancer"
},
{
"begin_idx": "116",
"end_idx": "122",
"entity_id": "D009369",
"entity_type": "Disease",
"text_name": "cancer"
}
] | [
"E-cadherin",
"E-cadherin"
] | [
"Korean familial gastric cancer",
"cancer"
] |
10319589 | Identification of three novel mutations in the MNK gene in three unrelated Japanese patients with classical Menkes disease. | Menkes disease is an X-linked recessive disorder of the copper membrane transport system caused by mutations to the Menkes (MNK) gene. We identified three novel mutations of the MNK gene in three unrelated Japanese patients with classical Menkes disease by analyzing reverse-transcriptase polymerase chain reaction prod... | [
{
"begin_idx": "47",
"end_idx": "50",
"entity_id": "D007706",
"entity_type": "Disease",
"text_name": "MNK"
},
{
"begin_idx": "108",
"end_idx": "122",
"entity_id": "D007706",
"entity_type": "Disease",
"text_name": "Menkes disease"
},
{
"begin_idx": "124",
"end_... | [
"Yes",
"No"
] | [
true,
false
] | [
{
"begin_idx": "240",
"end_idx": "246",
"entity_id": "538",
"entity_type": "Gene",
"text_name": "Menkes"
},
{
"begin_idx": "1030",
"end_idx": "1036",
"entity_id": "1769",
"entity_type": "Gene",
"text_name": "ATPase"
}
] | [
{
"begin_idx": "108",
"end_idx": "122",
"entity_id": "D007706",
"entity_type": "Disease",
"text_name": "Menkes disease"
},
{
"begin_idx": "124",
"end_idx": "138",
"entity_id": "D007706",
"entity_type": "Disease",
"text_name": "Menkes disease"
}
] | [
"Menkes",
"ATPase"
] | [
"Menkes disease",
"Menkes disease"
] |
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